TY  - CONF
AU  - Drakulić, Danijela
AU  - Cuturilo, Goran
AU  - Jovanović, Ida
AU  - Krstić, Aleksandar
AU  - Milivojević, Milena
AU  - Stevanović, Milena
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2181
AB  - Background/Objectives: 22q11.2 microdeletion, detected in
patients with 22q11.2 Deletion Syndrome (22q11.2DS), is the most
common microdeletion syndrome in humans. 22q11.2DS has high
risk for neurodevelopmental disorders and is associated with more than 180 malformations. Many investigations of the 22q11.2
microdeletion applying different recruitment criteria, revealed
detection rate ranging from zero to 34.7%. Here we analyzed the
frequency of 22q11.2 microdeletion among children having at
least two out of five major characteristics of 22q11.2DS: congenital
heart malformations (CHM), facial dysmorphism, immunological
problems, palatal clefts and hypocalcemia.
Methods: Children with clinical characteristics of 22q11.2DS
were analyzed. Fluorescence in situ hybridization and multiplex
ligation-dependent probe amplification analysis were applied for
detection of 22q11.2 microdeletion.
Results: 22q11.2 microdeletion was detected in approximately
40% of children. CHM was found in all patients with 22q11.2
microdeletion. Dysmorphic facial features were present in about
45%, immunological problems in 30%, overt cleft palate in about
4% and hypocalcemia in approximately 60% of patients with
22q11.2 microdeletion.
Conclusion: When at least two major features of 22q11.2DS are
taking into consideration higher detection rate is obtained compared
to one-feature criterion. These criteria could be considered
by centers in low-income countries.
PB  - Springer Nature
C3  - European Journal of Human Genetics
T1  - Detection rate of 22q11.2 microdeletion using strict diagnostic criteria
EP  - 240
IS  - Suppl 1
SP  - 240
VL  - 31
DO  - 10.1038/s41431-023-01339-3
ER  - 

@conference{
author = "Drakulić, Danijela and Cuturilo, Goran and Jovanović, Ida and Krstić, Aleksandar and Milivojević, Milena and Stevanović, Milena",
year = "2023",
abstract = "Background/Objectives: 22q11.2 microdeletion, detected in
patients with 22q11.2 Deletion Syndrome (22q11.2DS), is the most
common microdeletion syndrome in humans. 22q11.2DS has high
risk for neurodevelopmental disorders and is associated with more than 180 malformations. Many investigations of the 22q11.2
microdeletion applying different recruitment criteria, revealed
detection rate ranging from zero to 34.7%. Here we analyzed the
frequency of 22q11.2 microdeletion among children having at
least two out of five major characteristics of 22q11.2DS: congenital
heart malformations (CHM), facial dysmorphism, immunological
problems, palatal clefts and hypocalcemia.
Methods: Children with clinical characteristics of 22q11.2DS
were analyzed. Fluorescence in situ hybridization and multiplex
ligation-dependent probe amplification analysis were applied for
detection of 22q11.2 microdeletion.
Results: 22q11.2 microdeletion was detected in approximately
40% of children. CHM was found in all patients with 22q11.2
microdeletion. Dysmorphic facial features were present in about
45%, immunological problems in 30%, overt cleft palate in about
4% and hypocalcemia in approximately 60% of patients with
22q11.2 microdeletion.
Conclusion: When at least two major features of 22q11.2DS are
taking into consideration higher detection rate is obtained compared
to one-feature criterion. These criteria could be considered
by centers in low-income countries.",
publisher = "Springer Nature",
journal = "European Journal of Human Genetics",
title = "Detection rate of 22q11.2 microdeletion using strict diagnostic criteria",
pages = "240-240",
number = "Suppl 1",
volume = "31",
doi = "10.1038/s41431-023-01339-3"
}

Drakulić, D., Cuturilo, G., Jovanović, I., Krstić, A., Milivojević, M.,& Stevanović, M.. (2023). Detection rate of 22q11.2 microdeletion using strict diagnostic criteria. in European Journal of Human Genetics
Springer Nature., 31(Suppl 1), 240-240.
https://doi.org/10.1038/s41431-023-01339-3

Drakulić D, Cuturilo G, Jovanović I, Krstić A, Milivojević M, Stevanović M. Detection rate of 22q11.2 microdeletion using strict diagnostic criteria. in European Journal of Human Genetics. 2023;31(Suppl 1):240-240.
doi:10.1038/s41431-023-01339-3 .

Drakulić, Danijela, Cuturilo, Goran, Jovanović, Ida, Krstić, Aleksandar, Milivojević, Milena, Stevanović, Milena, "Detection rate of 22q11.2 microdeletion using strict diagnostic criteria" in European Journal of Human Genetics, 31, no. Suppl 1 (2023):240-240,
https://doi.org/10.1038/s41431-023-01339-3 . .

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  - 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  - 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 . .