TY  - JOUR
AU  - Rakonjac, Marijana
AU  - Cuturilo, Goran
AU  - Kovačević-Grujičić, Nataša
AU  - Simeunović, Ivana
AU  - Kostić, Jovana
AU  - Stevanović, Milena
AU  - Drakulić, Danijela
PY  - 2024
UR  - https://www.mdpi.com/2227-9067/11/4/489
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2362
AB  - 22q11.2 deletion syndrome (22q11.2DS), the most frequent microdeletion syndrome in humans, is related to a high risk of developing neurodevelopmental disorders. About 95% of patients with 22q11.2DS have speech and language impairments. Global articulation, story generation, and verbal memory tests were applied to compare articulatory characteristics of speech sounds, spontaneous language abilities, and immediate verbal memory between four groups of Serbian-speaking children: patients with 22q11.2DS, children with clinical presentation of 22q11.2DS that do not have the microdeletion, children with non-syndromic congenital heart defects, and their peers with typical speech–sound development. The obtained results showed that children with this microdeletion have impaired articulation skills and expressive language abilities. However, we did not observe weaker receptive language skills and immediate verbal memory compared to healthy controls. Children with 22q11.2DS should be considered a risk category for the development of speech–sound pathology and expressive language abilities. Since speech intelligibility is an instrument of cognition and adequate peer socialization, and language impairment in school-aged children with 22q11DS might be an indicator of increased risk for later psychotic symptoms, patients with 22q11.2 microdeletion should be included in a program of early stimulation of speech–language development immediately after diagnosis is established.
PB  - MDPI
T2  - Children
T2  - Children
T1  - Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion
IS  - 4
SP  - 489
VL  - 11
DO  - 10.3390/children11040489
ER  - 

@article{
author = "Rakonjac, Marijana and Cuturilo, Goran and Kovačević-Grujičić, Nataša and Simeunović, Ivana and Kostić, Jovana and Stevanović, Milena and Drakulić, Danijela",
year = "2024",
abstract = "22q11.2 deletion syndrome (22q11.2DS), the most frequent microdeletion syndrome in humans, is related to a high risk of developing neurodevelopmental disorders. About 95% of patients with 22q11.2DS have speech and language impairments. Global articulation, story generation, and verbal memory tests were applied to compare articulatory characteristics of speech sounds, spontaneous language abilities, and immediate verbal memory between four groups of Serbian-speaking children: patients with 22q11.2DS, children with clinical presentation of 22q11.2DS that do not have the microdeletion, children with non-syndromic congenital heart defects, and their peers with typical speech–sound development. The obtained results showed that children with this microdeletion have impaired articulation skills and expressive language abilities. However, we did not observe weaker receptive language skills and immediate verbal memory compared to healthy controls. Children with 22q11.2DS should be considered a risk category for the development of speech–sound pathology and expressive language abilities. Since speech intelligibility is an instrument of cognition and adequate peer socialization, and language impairment in school-aged children with 22q11DS might be an indicator of increased risk for later psychotic symptoms, patients with 22q11.2 microdeletion should be included in a program of early stimulation of speech–language development immediately after diagnosis is established.",
publisher = "MDPI",
journal = "Children, Children",
title = "Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion",
number = "4",
pages = "489",
volume = "11",
doi = "10.3390/children11040489"
}

Rakonjac, M., Cuturilo, G., Kovačević-Grujičić, N., Simeunović, I., Kostić, J., Stevanović, M.,& Drakulić, D.. (2024). Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion. in Children
MDPI., 11(4), 489.
https://doi.org/10.3390/children11040489

Rakonjac M, Cuturilo G, Kovačević-Grujičić N, Simeunović I, Kostić J, Stevanović M, Drakulić D. Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion. in Children. 2024;11(4):489.
doi:10.3390/children11040489 .

Rakonjac, Marijana, Cuturilo, Goran, Kovačević-Grujičić, Nataša, Simeunović, Ivana, Kostić, Jovana, Stevanović, Milena, Drakulić, Danijela, "Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion" in Children, 11, no. 4 (2024):489,
https://doi.org/10.3390/children11040489 . .

TY  - CONF
AU  - Miletić, Aleksandra
AU  - Cuturilo, Goran
AU  - Ruml Stojanović, Jelena
AU  - Drakulić, Danijela
AU  - Mijović, Marija
AU  - Bosankić, Brankica
AU  - Petrović, Hristina
AU  - Stevanović, Milena
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2180
AB  - Background/Objectives: Genetic tests may facilitate rapid and
effective diagnostics but unfortunately their high costs usually
limit their application in all patients (1). We aimed to investigate
the utility of rapid, cost effective and high sensitive Multiplex
ligation probe amplification analysis (MLPA) for detection copy
number variants (CNV) in newborns with critical CHD, admitted to
the Neonatal Intensive Care Unit (NICU).
Methods: Study included 100 consecutive newborns admitted
to the NICU, University Children’s Hospital in Belgrade from
August 2014 to September 2019. Patients with viable trisomies
(21, 18 and 13) were excluded. All participants were tested by
MLPA analysis using SALSA MLPA P250-B2 Di George and SALSA
MLPA P311-B1 Congenital Heart Disease probemixes (MRC Holland,
The Netherland).
Results: Pathogenic CNVs were identified in ten (10%) patients.
Nine of them had 22q11.2 deletion detected by both kits while
one patient had 3p25 deletion detected by P311 kit.
Conclusion: Genetic evaluation of all newborns with critical
CHD admitted to the NICU by rapid and inexpensive MLPA analysis
using combination P250 and P311 SALSA probemixes could
contribute to high detection rate of pathogenic variants.
PB  - Springer Nature
C3  - European Journal of Human Genetics
T1  - 22q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysis
EP  - 140
IS  - Suppl 1
SP  - 140
VL  - 31
DO  - 10.1038/s41431-023-01339-3
ER  - 

@conference{
author = "Miletić, Aleksandra and Cuturilo, Goran and Ruml Stojanović, Jelena and Drakulić, Danijela and Mijović, Marija and Bosankić, Brankica and Petrović, Hristina and Stevanović, Milena",
year = "2023",
abstract = "Background/Objectives: Genetic tests may facilitate rapid and
effective diagnostics but unfortunately their high costs usually
limit their application in all patients (1). We aimed to investigate
the utility of rapid, cost effective and high sensitive Multiplex
ligation probe amplification analysis (MLPA) for detection copy
number variants (CNV) in newborns with critical CHD, admitted to
the Neonatal Intensive Care Unit (NICU).
Methods: Study included 100 consecutive newborns admitted
to the NICU, University Children’s Hospital in Belgrade from
August 2014 to September 2019. Patients with viable trisomies
(21, 18 and 13) were excluded. All participants were tested by
MLPA analysis using SALSA MLPA P250-B2 Di George and SALSA
MLPA P311-B1 Congenital Heart Disease probemixes (MRC Holland,
The Netherland).
Results: Pathogenic CNVs were identified in ten (10%) patients.
Nine of them had 22q11.2 deletion detected by both kits while
one patient had 3p25 deletion detected by P311 kit.
Conclusion: Genetic evaluation of all newborns with critical
CHD admitted to the NICU by rapid and inexpensive MLPA analysis
using combination P250 and P311 SALSA probemixes could
contribute to high detection rate of pathogenic variants.",
publisher = "Springer Nature",
journal = "European Journal of Human Genetics",
title = "22q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysis",
pages = "140-140",
number = "Suppl 1",
volume = "31",
doi = "10.1038/s41431-023-01339-3"
}

Miletić, A., Cuturilo, G., Ruml Stojanović, J., Drakulić, D., Mijović, M., Bosankić, B., Petrović, H.,& Stevanović, M.. (2023). 22q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysis. in European Journal of Human Genetics
Springer Nature., 31(Suppl 1), 140-140.
https://doi.org/10.1038/s41431-023-01339-3

Miletić A, Cuturilo G, Ruml Stojanović J, Drakulić D, Mijović M, Bosankić B, Petrović H, Stevanović M. 22q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysis. in European Journal of Human Genetics. 2023;31(Suppl 1):140-140.
doi:10.1038/s41431-023-01339-3 .

Miletić, Aleksandra, Cuturilo, Goran, Ruml Stojanović, Jelena, Drakulić, Danijela, Mijović, Marija, Bosankić, Brankica, Petrović, Hristina, Stevanović, Milena, "22q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysis" in European Journal of Human Genetics, 31, no. Suppl 1 (2023):140-140,
https://doi.org/10.1038/s41431-023-01339-3 . .

TY  - CONF
AU  - Kostić, Jovana
AU  - Drakulić, Danijela
AU  - Cuturilo, Goran
AU  - Kovačević-Grujičić, Nataša
AU  - Simeunović, Ivana
AU  - Stevanović, Milena
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2194
AB  - Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD),
schizophrenia, and intellectual disability, are caused by disruption of early brain
development. NDDs represent important public health challenge in modern societies
with prevalence of about 10 to 15% of all births and the tendency of increasing
worldwide. On the other side, treatments of NDDs are focused on symptoms due to
limited understanding of underlying pathophysiological mechanisms. Individuals with
the 22q11.2 duplication syndrome (22q11.2dup), caused by heterozygous 22q11.2
microduplication, have an elevated risk of developing NDDs. Literature data revealed
that ASD is detected in 14-25% of patients with 22q11.2dup while schizophrenia is
less common in these patients than in the general population, suggesting that
22q11.2dup might be protective against schizophrenia. We investigated genomic and
clinical findings in cohort of 8 patients with 22q11.2dup. The majority of patients
have 3Mb duplication. Five patients have 22q11.2 microduplication inherited from
their parents. Other CNVs or SNVs are detected in 5 out of 8 patients. Common
medical anomalies in our cohort of patients include developmental delay, facial
dysmorphism, heart malformations, anomalies of the skeletal system, and anomalies
affecting the eye. Characterization of a cohort of patients with 22q11.2dup is
important since 22q11.2dup represents a powerful model to get insights into the
molecular mechanisms underlying NDDs.
PB  - Belgrade : Serbian Neuroscience Society
C3  - 8th Congress of the Serbian Neuroscience Society
T1  - Genomic and clinical findings in patients with 22q11.2 duplication syndrome
EP  - 97
SP  - 97
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2194
ER  - 

@conference{
author = "Kostić, Jovana and Drakulić, Danijela and Cuturilo, Goran and Kovačević-Grujičić, Nataša and Simeunović, Ivana and Stevanović, Milena",
year = "2023",
abstract = "Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD),
schizophrenia, and intellectual disability, are caused by disruption of early brain
development. NDDs represent important public health challenge in modern societies
with prevalence of about 10 to 15% of all births and the tendency of increasing
worldwide. On the other side, treatments of NDDs are focused on symptoms due to
limited understanding of underlying pathophysiological mechanisms. Individuals with
the 22q11.2 duplication syndrome (22q11.2dup), caused by heterozygous 22q11.2
microduplication, have an elevated risk of developing NDDs. Literature data revealed
that ASD is detected in 14-25% of patients with 22q11.2dup while schizophrenia is
less common in these patients than in the general population, suggesting that
22q11.2dup might be protective against schizophrenia. We investigated genomic and
clinical findings in cohort of 8 patients with 22q11.2dup. The majority of patients
have 3Mb duplication. Five patients have 22q11.2 microduplication inherited from
their parents. Other CNVs or SNVs are detected in 5 out of 8 patients. Common
medical anomalies in our cohort of patients include developmental delay, facial
dysmorphism, heart malformations, anomalies of the skeletal system, and anomalies
affecting the eye. Characterization of a cohort of patients with 22q11.2dup is
important since 22q11.2dup represents a powerful model to get insights into the
molecular mechanisms underlying NDDs.",
publisher = "Belgrade : Serbian Neuroscience Society",
journal = "8th Congress of the Serbian Neuroscience Society",
title = "Genomic and clinical findings in patients with 22q11.2 duplication syndrome",
pages = "97-97",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2194"
}

Kostić, J., Drakulić, D., Cuturilo, G., Kovačević-Grujičić, N., Simeunović, I.,& Stevanović, M.. (2023). Genomic and clinical findings in patients with 22q11.2 duplication syndrome. in 8th Congress of the Serbian Neuroscience Society
Belgrade : Serbian Neuroscience Society., 97-97.
https://hdl.handle.net/21.15107/rcub_imagine_2194

Kostić J, Drakulić D, Cuturilo G, Kovačević-Grujičić N, Simeunović I, Stevanović M. Genomic and clinical findings in patients with 22q11.2 duplication syndrome. in 8th Congress of the Serbian Neuroscience Society. 2023;:97-97.
https://hdl.handle.net/21.15107/rcub_imagine_2194 .

Kostić, Jovana, Drakulić, Danijela, Cuturilo, Goran, Kovačević-Grujičić, Nataša, Simeunović, Ivana, Stevanović, Milena, "Genomic and clinical findings in patients with 22q11.2 duplication syndrome" in 8th Congress of the Serbian Neuroscience Society (2023):97-97,
https://hdl.handle.net/21.15107/rcub_imagine_2194 .

TY  - JOUR
AU  - Miletić, Aleksandra
AU  - Ruml Stojanović, Jelena
AU  - Parezanović, Vojislav
AU  - Rsovac, Snežana
AU  - Drakulić, Danijela
AU  - Soldatović, Ivan
AU  - Mijović, Marija
AU  - Bosankić, Brankica
AU  - Petrović, Hristina
AU  - Borlja, Nikola
AU  - Milivojević, Milena
AU  - Marjanović, Ana
AU  - Branković, Marija
AU  - Cuturilo, Goran
PY  - 2021
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1414
AB  - Rapid and efficient diagnostics is crucial for newborns with congenital heart defects (CHD) in intensive care unit (ICU) but is often challenging. Given that genetic factors play a role in 20-30% cases of CHD, it is likely that genetic tests could improve both its speed and efficiency. We aimed to analyze the utility of rapid and cost-effective multiplex ligation dependent probe amplification analysis (MLPA) for chromosomal analysis in newborns with critical CHD. One hundred consecutive newborns admitted with critical CHD to the ICU were included in the study. Those with normal MLPA findings were further tested by chromosomal microarray and clinical exome sequencing. Overall, pathogenic/likely pathogenic variants were determined in ten (10%) newborns by MLPA, three (3%) by chromosomal microarray, and three (3%) by clinical exome sequencing. The most common variant detected was deletion of 22q11.2 region. Conclusion: MLPA is fast and cost-effective analysis that could be used as the first-tier test in newborns with critical CHD admitted to the ICU. What is Known: center dot MLPA is an established method for chromosome analysis in patients with CHD, but detection rate in newborns with critical CHD is unknown. What is New: center dot Study suggests that detection rate of casual variants using MLPA in newborns with critical CHD is 10%.
PB  - Springer, New York
T2  - European Journal of Pediatrics
T1  - Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit
EP  - 3227
IS  - 10
SP  - 3219
VL  - 180
DO  - 10.1007/s00431-021-04097-w
ER  - 

@article{
author = "Miletić, Aleksandra and Ruml Stojanović, Jelena and Parezanović, Vojislav and Rsovac, Snežana and Drakulić, Danijela and Soldatović, Ivan and Mijović, Marija and Bosankić, Brankica and Petrović, Hristina and Borlja, Nikola and Milivojević, Milena and Marjanović, Ana and Branković, Marija and Cuturilo, Goran",
year = "2021",
abstract = "Rapid and efficient diagnostics is crucial for newborns with congenital heart defects (CHD) in intensive care unit (ICU) but is often challenging. Given that genetic factors play a role in 20-30% cases of CHD, it is likely that genetic tests could improve both its speed and efficiency. We aimed to analyze the utility of rapid and cost-effective multiplex ligation dependent probe amplification analysis (MLPA) for chromosomal analysis in newborns with critical CHD. One hundred consecutive newborns admitted with critical CHD to the ICU were included in the study. Those with normal MLPA findings were further tested by chromosomal microarray and clinical exome sequencing. Overall, pathogenic/likely pathogenic variants were determined in ten (10%) newborns by MLPA, three (3%) by chromosomal microarray, and three (3%) by clinical exome sequencing. The most common variant detected was deletion of 22q11.2 region. Conclusion: MLPA is fast and cost-effective analysis that could be used as the first-tier test in newborns with critical CHD admitted to the ICU. What is Known: center dot MLPA is an established method for chromosome analysis in patients with CHD, but detection rate in newborns with critical CHD is unknown. What is New: center dot Study suggests that detection rate of casual variants using MLPA in newborns with critical CHD is 10%.",
publisher = "Springer, New York",
journal = "European Journal of Pediatrics",
title = "Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit",
pages = "3227-3219",
number = "10",
volume = "180",
doi = "10.1007/s00431-021-04097-w"
}

Miletić, A., Ruml Stojanović, J., Parezanović, V., Rsovac, S., Drakulić, D., Soldatović, I., Mijović, M., Bosankić, B., Petrović, H., Borlja, N., Milivojević, M., Marjanović, A., Branković, M.,& Cuturilo, G.. (2021). Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit. in European Journal of Pediatrics
Springer, New York., 180(10), 3219-3227.
https://doi.org/10.1007/s00431-021-04097-w

Miletić A, Ruml Stojanović J, Parezanović V, Rsovac S, Drakulić D, Soldatović I, Mijović M, Bosankić B, Petrović H, Borlja N, Milivojević M, Marjanović A, Branković M, Cuturilo G. Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit. in European Journal of Pediatrics. 2021;180(10):3219-3227.
doi:10.1007/s00431-021-04097-w .

Miletić, Aleksandra, Ruml Stojanović, Jelena, Parezanović, Vojislav, Rsovac, Snežana, Drakulić, Danijela, Soldatović, Ivan, Mijović, Marija, Bosankić, Brankica, Petrović, Hristina, Borlja, Nikola, Milivojević, Milena, Marjanović, Ana, Branković, Marija, Cuturilo, Goran, "Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit" in European Journal of Pediatrics, 180, no. 10 (2021):3219-3227,
https://doi.org/10.1007/s00431-021-04097-w . .

TY  - CONF
AU  - Mihaljević, Marina
AU  - Pejović-Milovancević, Milica
AU  - Janeski, Hristina
AU  - Mandić-Maravić, Vanja
AU  - Grujicić, Roberto
AU  - Drakulić, Danijela
AU  - Stevanović, Milena
AU  - Cuturilo, Goran
PY  - 2019
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1275
PB  - Elsevier, Amsterdam
C3  - European Neuropsychopharmacology
T1  - Autistic traits and cognitive dysfunctions in children with patogenic copy number variants: a pilot study from Serbia
EP  - 1279
SP  - 1278
VL  - 29
DO  - 10.1016/j.euroneuro.2018.08.384
ER  - 

@conference{
author = "Mihaljević, Marina and Pejović-Milovancević, Milica and Janeski, Hristina and Mandić-Maravić, Vanja and Grujicić, Roberto and Drakulić, Danijela and Stevanović, Milena and Cuturilo, Goran",
year = "2019",
publisher = "Elsevier, Amsterdam",
journal = "European Neuropsychopharmacology",
title = "Autistic traits and cognitive dysfunctions in children with patogenic copy number variants: a pilot study from Serbia",
pages = "1279-1278",
volume = "29",
doi = "10.1016/j.euroneuro.2018.08.384"
}

Mihaljević, M., Pejović-Milovancević, M., Janeski, H., Mandić-Maravić, V., Grujicić, R., Drakulić, D., Stevanović, M.,& Cuturilo, G.. (2019). Autistic traits and cognitive dysfunctions in children with patogenic copy number variants: a pilot study from Serbia. in European Neuropsychopharmacology
Elsevier, Amsterdam., 29, 1278-1279.
https://doi.org/10.1016/j.euroneuro.2018.08.384

Mihaljević M, Pejović-Milovancević M, Janeski H, Mandić-Maravić V, Grujicić R, Drakulić D, Stevanović M, Cuturilo G. Autistic traits and cognitive dysfunctions in children with patogenic copy number variants: a pilot study from Serbia. in European Neuropsychopharmacology. 2019;29:1278-1279.
doi:10.1016/j.euroneuro.2018.08.384 .

Mihaljević, Marina, Pejović-Milovancević, Milica, Janeski, Hristina, Mandić-Maravić, Vanja, Grujicić, Roberto, Drakulić, Danijela, Stevanović, Milena, Cuturilo, Goran, "Autistic traits and cognitive dysfunctions in children with patogenic copy number variants: a pilot study from Serbia" in European Neuropsychopharmacology, 29 (2019):1278-1279,
https://doi.org/10.1016/j.euroneuro.2018.08.384 . .

TY  - JOUR
AU  - Cuturilo, Goran
AU  - Drakulić, Danijela
AU  - Jovanović, Ida
AU  - Ilić, Slobodan
AU  - Kalanj, Jasna
AU  - Vulicević, Irena
AU  - Raus, Misela
AU  - Skorić, Dejan
AU  - Mijović, Marija
AU  - Medjo, Biljana
AU  - Rsovac, Snežana
AU  - Stevanović, Milena
PY  - 2017
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1035
AB  - 22q11.2 microdeletion is the most common microdeletion in humans. The purpose of this study was to evaluate postoperative outcome in children with 22q11.2 microdeletion who had undergone complete surgical correction of a congenital heart defect. The study included 34 patients who underwent complete correction of conotruncal heart defects. Of these, 17 patients diagnosed with 22q11.2 microdeletion represent the investigated group. Another 17 patients without 22q11.2 microdeletion represent the control group. Investigated and control groups differ significantly for total length of stay in the hospital (average 37.35 and 14.12 days, respectively); length of postoperative stay in the intensive care unit (average 10.82 and 6.76 days, respectively); sepsis (eight and two patients, respectively); administration of antibiotics (15 and seven patients, respectively); duration of antibiotic therapy (average 17.65 and 14.59 days, respectively); occurrence of hypocalcemia (16 and 0 patients, respectively); and initiation of peroral nutrition during the postoperative course (average 10.29 and 3.88 days, respectively). No difference was found for duration of ventilatory support (average 6.12 and 4.24 days, respectively), administration of total parenteral nutrition, and postoperative mortality rate. The study results suggest that genotype of 22q11.2 microdeletion affects postoperative outcome after cardiac surgery. Possible targets for intervention in postoperative intensive care management are prevention and treatment of systemic infections, monitoring, and treatment of hypocalcemias, rational administration of antibiotics and careful planning of nutrition. Consequently, this could shorten patients' intensive care stay and overall duration of hospitalization.
PB  - Springer, New York
T2  - Pediatric Cardiology
T1  - The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome
EP  - 1685
IS  - 8
SP  - 1680
VL  - 38
DO  - 10.1007/s00246-017-1713-7
ER  - 

@article{
author = "Cuturilo, Goran and Drakulić, Danijela and Jovanović, Ida and Ilić, Slobodan and Kalanj, Jasna and Vulicević, Irena and Raus, Misela and Skorić, Dejan and Mijović, Marija and Medjo, Biljana and Rsovac, Snežana and Stevanović, Milena",
year = "2017",
abstract = "22q11.2 microdeletion is the most common microdeletion in humans. The purpose of this study was to evaluate postoperative outcome in children with 22q11.2 microdeletion who had undergone complete surgical correction of a congenital heart defect. The study included 34 patients who underwent complete correction of conotruncal heart defects. Of these, 17 patients diagnosed with 22q11.2 microdeletion represent the investigated group. Another 17 patients without 22q11.2 microdeletion represent the control group. Investigated and control groups differ significantly for total length of stay in the hospital (average 37.35 and 14.12 days, respectively); length of postoperative stay in the intensive care unit (average 10.82 and 6.76 days, respectively); sepsis (eight and two patients, respectively); administration of antibiotics (15 and seven patients, respectively); duration of antibiotic therapy (average 17.65 and 14.59 days, respectively); occurrence of hypocalcemia (16 and 0 patients, respectively); and initiation of peroral nutrition during the postoperative course (average 10.29 and 3.88 days, respectively). No difference was found for duration of ventilatory support (average 6.12 and 4.24 days, respectively), administration of total parenteral nutrition, and postoperative mortality rate. The study results suggest that genotype of 22q11.2 microdeletion affects postoperative outcome after cardiac surgery. Possible targets for intervention in postoperative intensive care management are prevention and treatment of systemic infections, monitoring, and treatment of hypocalcemias, rational administration of antibiotics and careful planning of nutrition. Consequently, this could shorten patients' intensive care stay and overall duration of hospitalization.",
publisher = "Springer, New York",
journal = "Pediatric Cardiology",
title = "The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome",
pages = "1685-1680",
number = "8",
volume = "38",
doi = "10.1007/s00246-017-1713-7"
}

Cuturilo, G., Drakulić, D., Jovanović, I., Ilić, S., Kalanj, J., Vulicević, I., Raus, M., Skorić, D., Mijović, M., Medjo, B., Rsovac, S.,& Stevanović, M.. (2017). The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome. in Pediatric Cardiology
Springer, New York., 38(8), 1680-1685.
https://doi.org/10.1007/s00246-017-1713-7

Cuturilo G, Drakulić D, Jovanović I, Ilić S, Kalanj J, Vulicević I, Raus M, Skorić D, Mijović M, Medjo B, Rsovac S, Stevanović M. The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome. in Pediatric Cardiology. 2017;38(8):1680-1685.
doi:10.1007/s00246-017-1713-7 .

Cuturilo, Goran, Drakulić, Danijela, Jovanović, Ida, Ilić, Slobodan, Kalanj, Jasna, Vulicević, Irena, Raus, Misela, Skorić, Dejan, Mijović, Marija, Medjo, Biljana, Rsovac, Snežana, Stevanović, Milena, "The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome" in Pediatric Cardiology, 38, no. 8 (2017):1680-1685,
https://doi.org/10.1007/s00246-017-1713-7 . .

TY  - JOUR
AU  - Rakonjac, Marijana
AU  - Cuturilo, Goran
AU  - Stevanović, Milena
AU  - Jelicić, Ljiljana
AU  - Subotić, Misko
AU  - Jovanović, Ida
AU  - Drakulić, Danijela
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/939
AB  - Background: 22q11.2DS is the most common microdeletion syndrome in humans, usually associated with speech and language delay (SLD). Approximately 75% of children with 22q11.2 microdeletion have congenital heart malformations (CHM) which after infant open-heart surgery might lead to SLD. Aims: The purpose of this study was to determine whether factors associated with microdeletion contribute to SLD in children with 22q11.2DS. Methods and procedures: We compared speech and language abilities of two groups of school-aged children: those with 22q11.2 microdeletion (E1) and those with the phenotype resembling 22q11.2DS but without the microdeletion (E2). An age-matched group of typically developing children was also tested. Outcomes and results: The obtained results revealed that children from group E1 have lower level of speech and language abilities compared to children from group E2 and control group. Additionally, mild to moderate SLD was detected in children from group E2 compared to children from the control group. Conclusions and implications: The obtained results imply that both CHM after infant open-heart surgery and other factors associated with 22q11.2 microdeletion, contribute to SLD in patients with 22q11.2 microdeletion. Based on this, we could postulate that there is/are some potential candidate gene(s), located in the 22q11.2 region, whose function could be important for speech and language development.
PB  - Pergamon-Elsevier Science Ltd, Oxford
T2  - Research in Developmental Disabilities
T1  - Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion
EP  - 329
SP  - 322
VL  - 55
DO  - 10.1016/j.ridd.2016.05.006
ER  - 

@article{
author = "Rakonjac, Marijana and Cuturilo, Goran and Stevanović, Milena and Jelicić, Ljiljana and Subotić, Misko and Jovanović, Ida and Drakulić, Danijela",
year = "2016",
abstract = "Background: 22q11.2DS is the most common microdeletion syndrome in humans, usually associated with speech and language delay (SLD). Approximately 75% of children with 22q11.2 microdeletion have congenital heart malformations (CHM) which after infant open-heart surgery might lead to SLD. Aims: The purpose of this study was to determine whether factors associated with microdeletion contribute to SLD in children with 22q11.2DS. Methods and procedures: We compared speech and language abilities of two groups of school-aged children: those with 22q11.2 microdeletion (E1) and those with the phenotype resembling 22q11.2DS but without the microdeletion (E2). An age-matched group of typically developing children was also tested. Outcomes and results: The obtained results revealed that children from group E1 have lower level of speech and language abilities compared to children from group E2 and control group. Additionally, mild to moderate SLD was detected in children from group E2 compared to children from the control group. Conclusions and implications: The obtained results imply that both CHM after infant open-heart surgery and other factors associated with 22q11.2 microdeletion, contribute to SLD in patients with 22q11.2 microdeletion. Based on this, we could postulate that there is/are some potential candidate gene(s), located in the 22q11.2 region, whose function could be important for speech and language development.",
publisher = "Pergamon-Elsevier Science Ltd, Oxford",
journal = "Research in Developmental Disabilities",
title = "Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion",
pages = "329-322",
volume = "55",
doi = "10.1016/j.ridd.2016.05.006"
}

Rakonjac, M., Cuturilo, G., Stevanović, M., Jelicić, L., Subotić, M., Jovanović, I.,& Drakulić, D.. (2016). Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion. in Research in Developmental Disabilities
Pergamon-Elsevier Science Ltd, Oxford., 55, 322-329.
https://doi.org/10.1016/j.ridd.2016.05.006

Rakonjac M, Cuturilo G, Stevanović M, Jelicić L, Subotić M, Jovanović I, Drakulić D. Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion. in Research in Developmental Disabilities. 2016;55:322-329.
doi:10.1016/j.ridd.2016.05.006 .

Rakonjac, Marijana, Cuturilo, Goran, Stevanović, Milena, Jelicić, Ljiljana, Subotić, Misko, Jovanović, Ida, Drakulić, Danijela, "Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion" in Research in Developmental Disabilities, 55 (2016):322-329,
https://doi.org/10.1016/j.ridd.2016.05.006 . .

TY  - JOUR
AU  - Rakonjac, Marijana
AU  - Cuturilo, Goran
AU  - Stevanović, Milena
AU  - Jovanović, Ida
AU  - Dobrijević, Ljiljana Jelicic
AU  - Mijović, Marija
AU  - Drakulić, Danijela
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/968
AB  - The 22q11.2 Deletion Syndrome (22q11.2DS), which encompasses Shprintzen syndrome, DiGeorge and velocardiofacial syndrome, is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. After Down syndrome, it is the second most common genetic syndrome associated with congenital heart malformations. The mode of inheritance of the 22q11.2DS is autosomal dominant. In approximately 72-94% of the cases the deletion has occurred de novo, while in 6 to 28% of patients deletion was inherited from a parent. As a part of a multidisciplinary study we examined the speech and language abilities of members of two families with inherited form of 22q11.2DS. The presence of 22q11.2 microdeletion was revealed by fluorescence in situ hybridization (FISH) and/or multiplex ligation-dependent probe amplification (MLPA). In one family we detected 1.5 Mb 22q11.2 microdeletion, while in the other family we found 3Mb microdeletion. Patients from both families showed delays in cognitive, socio-emotional, speech and language development. Furthermore, we found considerable variability in the phenotypic characteristics of 22q11.2DS and the degree of speech-language pathology not only between different families with 22q11.2 deletion, but also among members of the same family. In addition, we detected no correlation between the phenotype and the size of 22q11.2 microdeletion.
PB  - Društvo genetičara Srbije, Beograd
T2  - Genetika-Belgrade
T1  - Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome
EP  - 72
IS  - 1
SP  - 57
VL  - 48
DO  - 10.2298/GENSR1601057R
ER  - 

@article{
author = "Rakonjac, Marijana and Cuturilo, Goran and Stevanović, Milena and Jovanović, Ida and Dobrijević, Ljiljana Jelicic and Mijović, Marija and Drakulić, Danijela",
year = "2016",
abstract = "The 22q11.2 Deletion Syndrome (22q11.2DS), which encompasses Shprintzen syndrome, DiGeorge and velocardiofacial syndrome, is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. After Down syndrome, it is the second most common genetic syndrome associated with congenital heart malformations. The mode of inheritance of the 22q11.2DS is autosomal dominant. In approximately 72-94% of the cases the deletion has occurred de novo, while in 6 to 28% of patients deletion was inherited from a parent. As a part of a multidisciplinary study we examined the speech and language abilities of members of two families with inherited form of 22q11.2DS. The presence of 22q11.2 microdeletion was revealed by fluorescence in situ hybridization (FISH) and/or multiplex ligation-dependent probe amplification (MLPA). In one family we detected 1.5 Mb 22q11.2 microdeletion, while in the other family we found 3Mb microdeletion. Patients from both families showed delays in cognitive, socio-emotional, speech and language development. Furthermore, we found considerable variability in the phenotypic characteristics of 22q11.2DS and the degree of speech-language pathology not only between different families with 22q11.2 deletion, but also among members of the same family. In addition, we detected no correlation between the phenotype and the size of 22q11.2 microdeletion.",
publisher = "Društvo genetičara Srbije, Beograd",
journal = "Genetika-Belgrade",
title = "Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome",
pages = "72-57",
number = "1",
volume = "48",
doi = "10.2298/GENSR1601057R"
}

Rakonjac, M., Cuturilo, G., Stevanović, M., Jovanović, I., Dobrijević, L. J., Mijović, M.,& Drakulić, D.. (2016). Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome. in Genetika-Belgrade
Društvo genetičara Srbije, Beograd., 48(1), 57-72.
https://doi.org/10.2298/GENSR1601057R

Rakonjac M, Cuturilo G, Stevanović M, Jovanović I, Dobrijević LJ, Mijović M, Drakulić D. Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome. in Genetika-Belgrade. 2016;48(1):57-72.
doi:10.2298/GENSR1601057R .

Rakonjac, Marijana, Cuturilo, Goran, Stevanović, Milena, Jovanović, Ida, Dobrijević, Ljiljana Jelicic, Mijović, Marija, Drakulić, Danijela, "Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome" in Genetika-Belgrade, 48, no. 1 (2016):57-72,
https://doi.org/10.2298/GENSR1601057R . .

TY  - JOUR
AU  - Cuturilo, Goran
AU  - Drakulić, Danijela
AU  - Jovanović, Ida
AU  - Krstić, Aleksandar
AU  - Đukić, Milan
AU  - Skorić, Dejan
AU  - Mijović, Marija
AU  - Stefanović, Igor
AU  - Milivojević, Milena
AU  - Stevanović, Milena
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/961
AB  - Objective: The incidence of the 22q11.2 microdeletion among children who have at least two out of five major clinical criteria for 22q11.2 deletion syndrome. Design: Prospective study. Setting: University Children's Hospital in Belgrade, Serbia between 2005 and 2014. Participants: 57 patients with clinical characteristics of 22q11.2 deletion syndrome. Methods: Standard G-banding cytogenetic analysis was performed in all children, and the 22q11.2 genomic region was examined using fluorescence in situ hybridization (FISH). For patients with no deletion detected by FISH, multiplex ligation dependent probe amplification (MLPA) analysis was also done in order to detect cryptic deletions of this region and to analyze other genomic loci associated with phenotypes resembling the syndrome. A selected group of patients diagnosed to have 22q11.2 microdeletion by FISH underwent MLPA testing in order to characterize the size and position of deletion. Outcome Measure: The frequency of 22q11.2 microdeletion among children with at least two of the five major characteristics of 22q11.2 deletion syndrome (heart malformations, facial dysmorphism, T-cell immunodeficiency, palatal clefts and hypocalcemia/hypoparathyroid ism) Results: Typical 22q11.2 microdeletion was detected in 42.1% of patients; heart malformation were identified in all of them, facial dysmorphism in 79.2%, immunological problems in 63.6%, hypocalcemia in 62.5% and cleft palate in 8.3%. Conclusions: A higher detection rate compared to one-feature criterion is obtained when at least two major features of 22q11.2 deletion syndrome are taking into consideration. The criteria applied in this study could be considered by centers in low-income countries.
PB  - Springer India
T2  - Indian Pediatrics
T1  - Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia
EP  - 789
IS  - 9
SP  - 786
VL  - 53
DO  - 10.1007/s13312-016-0931-z
ER  - 

@article{
author = "Cuturilo, Goran and Drakulić, Danijela and Jovanović, Ida and Krstić, Aleksandar and Đukić, Milan and Skorić, Dejan and Mijović, Marija and Stefanović, Igor and Milivojević, Milena and Stevanović, Milena",
year = "2016",
abstract = "Objective: The incidence of the 22q11.2 microdeletion among children who have at least two out of five major clinical criteria for 22q11.2 deletion syndrome. Design: Prospective study. Setting: University Children's Hospital in Belgrade, Serbia between 2005 and 2014. Participants: 57 patients with clinical characteristics of 22q11.2 deletion syndrome. Methods: Standard G-banding cytogenetic analysis was performed in all children, and the 22q11.2 genomic region was examined using fluorescence in situ hybridization (FISH). For patients with no deletion detected by FISH, multiplex ligation dependent probe amplification (MLPA) analysis was also done in order to detect cryptic deletions of this region and to analyze other genomic loci associated with phenotypes resembling the syndrome. A selected group of patients diagnosed to have 22q11.2 microdeletion by FISH underwent MLPA testing in order to characterize the size and position of deletion. Outcome Measure: The frequency of 22q11.2 microdeletion among children with at least two of the five major characteristics of 22q11.2 deletion syndrome (heart malformations, facial dysmorphism, T-cell immunodeficiency, palatal clefts and hypocalcemia/hypoparathyroid ism) Results: Typical 22q11.2 microdeletion was detected in 42.1% of patients; heart malformation were identified in all of them, facial dysmorphism in 79.2%, immunological problems in 63.6%, hypocalcemia in 62.5% and cleft palate in 8.3%. Conclusions: A higher detection rate compared to one-feature criterion is obtained when at least two major features of 22q11.2 deletion syndrome are taking into consideration. The criteria applied in this study could be considered by centers in low-income countries.",
publisher = "Springer India",
journal = "Indian Pediatrics",
title = "Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia",
pages = "789-786",
number = "9",
volume = "53",
doi = "10.1007/s13312-016-0931-z"
}

Cuturilo, G., Drakulić, D., Jovanović, I., Krstić, A., Đukić, M., Skorić, D., Mijović, M., Stefanović, I., Milivojević, M.,& Stevanović, M.. (2016). Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia. in Indian Pediatrics
Springer India., 53(9), 786-789.
https://doi.org/10.1007/s13312-016-0931-z

Cuturilo G, Drakulić D, Jovanović I, Krstić A, Đukić M, Skorić D, Mijović M, Stefanović I, Milivojević M, Stevanović M. Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia. in Indian Pediatrics. 2016;53(9):786-789.
doi:10.1007/s13312-016-0931-z .

Cuturilo, Goran, Drakulić, Danijela, Jovanović, Ida, Krstić, Aleksandar, Đukić, Milan, Skorić, Dejan, Mijović, Marija, Stefanović, Igor, Milivojević, Milena, Stevanović, Milena, "Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia" in Indian Pediatrics, 53, no. 9 (2016):786-789,
https://doi.org/10.1007/s13312-016-0931-z . .

TY  - JOUR
AU  - Cuturilo, Goran
AU  - Drakulić, Danijela
AU  - Krstić, Aleksandar
AU  - Gradinac, Marija
AU  - Ilisić, Tamara
AU  - Parezanović, Vojislav
AU  - Milivojević, Milena
AU  - Stevanović, Milena
AU  - Jovanović, Ida
PY  - 2013
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/678
AB  - Malposition of the branch pulmonary arteries is a rare malformation with two forms. In the typical form, pulmonary arteries cross each other as they proceed to their respective lungs. The "lesser form" is characterised by the left pulmonary artery ostium lying directly superior to the ostium of the right pulmonary artery, without crossing of the branch pulmonary arteries. Malposition of the branch pulmonary arteries is often associated with other congenital heart defects and extracardiac anomalies, as well as with 22q11.2 microdeletion. We report three infants with crossed pulmonary arteries and one adolescent with "lesser form" of the malformation. The results suggest that diagnosis of malposition of the branch pulmonary arteries could be challenging if based solely on echocardiography, whereas modern imaging technologies such as contrast computed tomography and magnetic resonance angiography provide reliable establishment of diagnosis. In addition, we performed the first molecular characterisation of the 22q11.2 region among patients with malposition of the branch pulmonary arteries and revealed a 3-megabase deletion in two out of four patients.
PB  - Cambridge Univ Press, Cambridge
T2  - Cardiology in the Young
T1  - The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2
EP  - 188
IS  - 2
SP  - 181
VL  - 23
DO  - 10.1017/S1047951112000571
ER  - 

@article{
author = "Cuturilo, Goran and Drakulić, Danijela and Krstić, Aleksandar and Gradinac, Marija and Ilisić, Tamara and Parezanović, Vojislav and Milivojević, Milena and Stevanović, Milena and Jovanović, Ida",
year = "2013",
abstract = "Malposition of the branch pulmonary arteries is a rare malformation with two forms. In the typical form, pulmonary arteries cross each other as they proceed to their respective lungs. The "lesser form" is characterised by the left pulmonary artery ostium lying directly superior to the ostium of the right pulmonary artery, without crossing of the branch pulmonary arteries. Malposition of the branch pulmonary arteries is often associated with other congenital heart defects and extracardiac anomalies, as well as with 22q11.2 microdeletion. We report three infants with crossed pulmonary arteries and one adolescent with "lesser form" of the malformation. The results suggest that diagnosis of malposition of the branch pulmonary arteries could be challenging if based solely on echocardiography, whereas modern imaging technologies such as contrast computed tomography and magnetic resonance angiography provide reliable establishment of diagnosis. In addition, we performed the first molecular characterisation of the 22q11.2 region among patients with malposition of the branch pulmonary arteries and revealed a 3-megabase deletion in two out of four patients.",
publisher = "Cambridge Univ Press, Cambridge",
journal = "Cardiology in the Young",
title = "The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2",
pages = "188-181",
number = "2",
volume = "23",
doi = "10.1017/S1047951112000571"
}

Cuturilo, G., Drakulić, D., Krstić, A., Gradinac, M., Ilisić, T., Parezanović, V., Milivojević, M., Stevanović, M.,& Jovanović, I.. (2013). The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2. in Cardiology in the Young
Cambridge Univ Press, Cambridge., 23(2), 181-188.
https://doi.org/10.1017/S1047951112000571

Cuturilo G, Drakulić D, Krstić A, Gradinac M, Ilisić T, Parezanović V, Milivojević M, Stevanović M, Jovanović I. The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2. in Cardiology in the Young. 2013;23(2):181-188.
doi:10.1017/S1047951112000571 .

Cuturilo, Goran, Drakulić, Danijela, Krstić, Aleksandar, Gradinac, Marija, Ilisić, Tamara, Parezanović, Vojislav, Milivojević, Milena, Stevanović, Milena, Jovanović, Ida, "The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2" in Cardiology in the Young, 23, no. 2 (2013):181-188,
https://doi.org/10.1017/S1047951112000571 . .

TY  - JOUR
AU  - Cuturilo, Goran
AU  - Menten, Bjorn
AU  - Krstić, Aleksandar
AU  - Drakulić, Danijela
AU  - Jovanović, Ida
AU  - Parezanović, Vojislav
AU  - Stevanović, Milena
PY  - 2011
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/494
AB  - Small terminal or interstitial deletions involving bands 4q34 and 4q35 have been described in several patients with a relatively mild phenotype such as mild to moderate intellectual disability and minor dysmorphic features. We present a boy born from unrelated parents with a de novo 4q34.1-q35.2 deletion and clinical features resembling 22q11.2 deletion syndrome. To the best of our knowledge, this is the first reported patient with 4q34-q35 deletion and phenotype resembling 22q11.2 deletion syndrome without fifth finger anomalies as a specific feature of 4q- syndrome. G-banding karyotyping disclosed the deletion, which was further delineated by microarray comparative genomic hybridization. Fluorescence in situ hybridization and multiplex ligation-dependent probe amplification analyses did not reveal rearrangements of 22q11.2 region. MLPA confirmed the deletion within the 4q35.2 region. Conclusion: Given the considerable clinical overlaps between the 22q11.2 deletion syndrome and clinical manifestation of the patient described in this study, we propose that region 4q34.1-q35.2 should be considered as another region associated with phenotype resembling 22q11.2 deletion syndrome. We also propose that distal 4q deletions should be considered in the evaluation of patients with phenotypic manifestations resembling 22q11.2 deletion syndrome in whom no 22q11.2 micro-deletion was detected, even in the absence of distinctive fifth finger anomalies. Additionally, we underline the importance of applying array CGH that enables simultaneous genome-wide detection and delineation of copy number changes (e. g., deletions and duplications).
PB  - Springer, New York
T2  - European Journal of Pediatrics
T1  - 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome
EP  - 1470
IS  - 11
SP  - 1465
VL  - 170
DO  - 10.1007/s00431-011-1533-3
ER  - 

@article{
author = "Cuturilo, Goran and Menten, Bjorn and Krstić, Aleksandar and Drakulić, Danijela and Jovanović, Ida and Parezanović, Vojislav and Stevanović, Milena",
year = "2011",
abstract = "Small terminal or interstitial deletions involving bands 4q34 and 4q35 have been described in several patients with a relatively mild phenotype such as mild to moderate intellectual disability and minor dysmorphic features. We present a boy born from unrelated parents with a de novo 4q34.1-q35.2 deletion and clinical features resembling 22q11.2 deletion syndrome. To the best of our knowledge, this is the first reported patient with 4q34-q35 deletion and phenotype resembling 22q11.2 deletion syndrome without fifth finger anomalies as a specific feature of 4q- syndrome. G-banding karyotyping disclosed the deletion, which was further delineated by microarray comparative genomic hybridization. Fluorescence in situ hybridization and multiplex ligation-dependent probe amplification analyses did not reveal rearrangements of 22q11.2 region. MLPA confirmed the deletion within the 4q35.2 region. Conclusion: Given the considerable clinical overlaps between the 22q11.2 deletion syndrome and clinical manifestation of the patient described in this study, we propose that region 4q34.1-q35.2 should be considered as another region associated with phenotype resembling 22q11.2 deletion syndrome. We also propose that distal 4q deletions should be considered in the evaluation of patients with phenotypic manifestations resembling 22q11.2 deletion syndrome in whom no 22q11.2 micro-deletion was detected, even in the absence of distinctive fifth finger anomalies. Additionally, we underline the importance of applying array CGH that enables simultaneous genome-wide detection and delineation of copy number changes (e. g., deletions and duplications).",
publisher = "Springer, New York",
journal = "European Journal of Pediatrics",
title = "4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome",
pages = "1470-1465",
number = "11",
volume = "170",
doi = "10.1007/s00431-011-1533-3"
}

Cuturilo, G., Menten, B., Krstić, A., Drakulić, D., Jovanović, I., Parezanović, V.,& Stevanović, M.. (2011). 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome. in European Journal of Pediatrics
Springer, New York., 170(11), 1465-1470.
https://doi.org/10.1007/s00431-011-1533-3

Cuturilo G, Menten B, Krstić A, Drakulić D, Jovanović I, Parezanović V, Stevanović M. 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome. in European Journal of Pediatrics. 2011;170(11):1465-1470.
doi:10.1007/s00431-011-1533-3 .

Cuturilo, Goran, Menten, Bjorn, Krstić, Aleksandar, Drakulić, Danijela, Jovanović, Ida, Parezanović, Vojislav, Stevanović, Milena, "4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome" in European Journal of Pediatrics, 170, no. 11 (2011):1465-1470,
https://doi.org/10.1007/s00431-011-1533-3 . .

TY  - JOUR
AU  - Cuturilo, Goran
AU  - Drakulić, Danijela
AU  - Stevanović, Milena
AU  - Jovanović, Ida
AU  - Đukić, Milan
AU  - Miletić-Grković, Slobodanka
AU  - Atanasković-Marković, Marina
PY  - 2008
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/297
AB  - Microdeletion 22q11.2 is associated with a variety of findings, and the most common are cardiac defects. It is very frequently associated with interrupted aortic arch (IAA) type B and very rarely with type A and type C. Here we report the first case of IAA type C associated with 22q11.2 deletion in Serbia and, to the best of our knowledge, the fourth case described worldwide so far. By this report we would like to point out that all patients with IAA type C who have additional features specific for 22q11.2 microdeletion syndrome should be screened for the presence of this deletion.
PB  - Springer, New York
T2  - European Journal of Pediatrics
T1  - A rare association of interrupted aortic arch type C and microdeletion 22q11.2
EP  - 1198
IS  - 10
SP  - 1195
VL  - 167
DO  - 10.1007/s00431-007-0632-7
ER  - 

@article{
author = "Cuturilo, Goran and Drakulić, Danijela and Stevanović, Milena and Jovanović, Ida and Đukić, Milan and Miletić-Grković, Slobodanka and Atanasković-Marković, Marina",
year = "2008",
abstract = "Microdeletion 22q11.2 is associated with a variety of findings, and the most common are cardiac defects. It is very frequently associated with interrupted aortic arch (IAA) type B and very rarely with type A and type C. Here we report the first case of IAA type C associated with 22q11.2 deletion in Serbia and, to the best of our knowledge, the fourth case described worldwide so far. By this report we would like to point out that all patients with IAA type C who have additional features specific for 22q11.2 microdeletion syndrome should be screened for the presence of this deletion.",
publisher = "Springer, New York",
journal = "European Journal of Pediatrics",
title = "A rare association of interrupted aortic arch type C and microdeletion 22q11.2",
pages = "1198-1195",
number = "10",
volume = "167",
doi = "10.1007/s00431-007-0632-7"
}

Cuturilo, G., Drakulić, D., Stevanović, M., Jovanović, I., Đukić, M., Miletić-Grković, S.,& Atanasković-Marković, M.. (2008). A rare association of interrupted aortic arch type C and microdeletion 22q11.2. in European Journal of Pediatrics
Springer, New York., 167(10), 1195-1198.
https://doi.org/10.1007/s00431-007-0632-7

Cuturilo G, Drakulić D, Stevanović M, Jovanović I, Đukić M, Miletić-Grković S, Atanasković-Marković M. A rare association of interrupted aortic arch type C and microdeletion 22q11.2. in European Journal of Pediatrics. 2008;167(10):1195-1198.
doi:10.1007/s00431-007-0632-7 .

Cuturilo, Goran, Drakulić, Danijela, Stevanović, Milena, Jovanović, Ida, Đukić, Milan, Miletić-Grković, Slobodanka, Atanasković-Marković, Marina, "A rare association of interrupted aortic arch type C and microdeletion 22q11.2" in European Journal of Pediatrics, 167, no. 10 (2008):1195-1198,
https://doi.org/10.1007/s00431-007-0632-7 . .