TY  - CONF
AU  - Mijović, Marija
AU  - Cuturilo, Goran
AU  - Ruml Stojanović, Jelena
AU  - Miletić, Aleksandra
AU  - Bosankić, Brankica
AU  - Petrović, Hristina
AU  - Vasić, Bojana
AU  - Vukasinović, Nađa
PY  - 2023
UR  - https://belbi.bg.ac.rs/
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2055
AB  - ACMG recognizes five different categories of sequence variants identified by next
generation sequencing (pathogenic, likely pathogenic, variants of unknown significance,
likely benign and benign). Sometimes, potentially relevant gene variants could be
categorized as variants of unknown significance according to the level of available
evidences. Because of that, detailed assessment of the phenotype-genotype correlation
by the clinical geneticist in each individual case is crucially important. The interpretation
and classification of a variant may change over time. Variant reinterpretation is defined as
the practice of reevaluating all the evidence available about the pathogenicity of a genetic
variant and taking into account any new evidence that is made available since the previous
interpretation.
For the last seven years, we had 168 patients with clinically suspected locus heterogeneous
skeletal dysplasia. Next generation sequencing (NGS) using clinical exome sequencing
or whole exome sequencing was performed for all. All patients underwent detailed
phenotype-genotype correlation investigation.
Molecular diagnosis by determining the pathogenic or likely pathogenic causative gene
variant(s) was established for 102 out of 168 patients (60.71%). Additionally, in 10 patients
(5.95%) variant of unknown significance (VUS) with good phenotype-genotype correlation
was identified. These VUS variants could be potentially, and possibly are, causal, although
there are no reliable evidences of their pathogenicity at the moment. In one of the positive
patients in our study, the variant was initially classified as VUS, but with new evidence it
was reclassified as likely pathogenic.
In the present study, a potentially relevant variant of unknown significance was detected
in 5.95% of patients, which is a non-negligible proportion. For all these patients, we have
organized clinical follow-up with periodic reinterpretation and reclassification of the
detected variants.
PB  - Belgrade : Institute of molecular genetics and genetic engineering
C3  - 4th Belgrade Bioinformatics Conference
T1  - Potentially relevant variants of unknown significance in NGS-tested patients with suspected skeletal dysplasia
EP  - 110
SP  - 110
VL  - 4
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2055
ER  - 

@conference{
author = "Mijović, Marija and Cuturilo, Goran and Ruml Stojanović, Jelena and Miletić, Aleksandra and Bosankić, Brankica and Petrović, Hristina and Vasić, Bojana and Vukasinović, Nađa",
year = "2023",
abstract = "ACMG recognizes five different categories of sequence variants identified by next
generation sequencing (pathogenic, likely pathogenic, variants of unknown significance,
likely benign and benign). Sometimes, potentially relevant gene variants could be
categorized as variants of unknown significance according to the level of available
evidences. Because of that, detailed assessment of the phenotype-genotype correlation
by the clinical geneticist in each individual case is crucially important. The interpretation
and classification of a variant may change over time. Variant reinterpretation is defined as
the practice of reevaluating all the evidence available about the pathogenicity of a genetic
variant and taking into account any new evidence that is made available since the previous
interpretation.
For the last seven years, we had 168 patients with clinically suspected locus heterogeneous
skeletal dysplasia. Next generation sequencing (NGS) using clinical exome sequencing
or whole exome sequencing was performed for all. All patients underwent detailed
phenotype-genotype correlation investigation.
Molecular diagnosis by determining the pathogenic or likely pathogenic causative gene
variant(s) was established for 102 out of 168 patients (60.71%). Additionally, in 10 patients
(5.95%) variant of unknown significance (VUS) with good phenotype-genotype correlation
was identified. These VUS variants could be potentially, and possibly are, causal, although
there are no reliable evidences of their pathogenicity at the moment. In one of the positive
patients in our study, the variant was initially classified as VUS, but with new evidence it
was reclassified as likely pathogenic.
In the present study, a potentially relevant variant of unknown significance was detected
in 5.95% of patients, which is a non-negligible proportion. For all these patients, we have
organized clinical follow-up with periodic reinterpretation and reclassification of the
detected variants.",
publisher = "Belgrade : Institute of molecular genetics and genetic engineering",
journal = "4th Belgrade Bioinformatics Conference",
title = "Potentially relevant variants of unknown significance in NGS-tested patients with suspected skeletal dysplasia",
pages = "110-110",
volume = "4",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2055"
}

Mijović, M., Cuturilo, G., Ruml Stojanović, J., Miletić, A., Bosankić, B., Petrović, H., Vasić, B.,& Vukasinović, N.. (2023). Potentially relevant variants of unknown significance in NGS-tested patients with suspected skeletal dysplasia. in 4th Belgrade Bioinformatics Conference
Belgrade : Institute of molecular genetics and genetic engineering., 4, 110-110.
https://hdl.handle.net/21.15107/rcub_imagine_2055

Mijović M, Cuturilo G, Ruml Stojanović J, Miletić A, Bosankić B, Petrović H, Vasić B, Vukasinović N. Potentially relevant variants of unknown significance in NGS-tested patients with suspected skeletal dysplasia. in 4th Belgrade Bioinformatics Conference. 2023;4:110-110.
https://hdl.handle.net/21.15107/rcub_imagine_2055 .

Mijović, Marija, Cuturilo, Goran, Ruml Stojanović, Jelena, Miletić, Aleksandra, Bosankić, Brankica, Petrović, Hristina, Vasić, Bojana, Vukasinović, Nađa, "Potentially relevant variants of unknown significance in NGS-tested patients with suspected skeletal dysplasia" in 4th Belgrade Bioinformatics Conference, 4 (2023):110-110,
https://hdl.handle.net/21.15107/rcub_imagine_2055 .

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  - 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  - 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  - 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  - 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 . .