Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia
Само за регистроване кориснике
2016
Аутори
Cuturilo, GoranDrakulić, Danijela
Jovanović, Ida
Krstić, Aleksandar
Đukić, Milan
Skorić, Dejan
Mijović, Marija
Stefanović, Igor
Milivojević, Milena
Stevanović, Milena
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
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 microd...eletion 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.
Кључне речи:
multiplex ligation-dependent probe amplification / fluorescence in situ hybridization / DiGeorge syndromeИзвор:
Indian Pediatrics, 2016, 53, 9, 786-789Издавач:
- Springer India
Финансирање / пројекти:
- Проучавање сигналних путева и епигенетичких механизама укључених у контролу експресије хуманих SOX гена: даље расветљавање њихове улоге у одређивању судбине и диференцијацији ћелија (RS-MESTD-Basic Research (BR or ON)-173051)
DOI: 10.1007/s13312-016-0931-z
ISSN: 0019-6061
PubMed: 27771646
WoS: 000384387100004
Scopus: 2-s2.0-84991229736
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - 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 . .