A rare association of interrupted aortic arch type C and microdeletion 22q11.2
Samo za registrovane korisnike
2008
Autori
Cuturilo, GoranDrakulić, Danijela
Stevanović, Milena
Jovanović, Ida
Đukić, Milan
Miletić-Grković, Slobodanka
Atanasković-Marković, Marina
Članak u časopisu (Objavljena verzija)
Metapodaci
Prikaz svih podataka o dokumentuApstrakt
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.
Ključne reči:
microdeletion in chromosome 22q11.2 / interrupted aortic arch type CIzvor:
European Journal of Pediatrics, 2008, 167, 10, 1195-1198Izdavač:
- Springer, New York
Finansiranje / projekti:
- Izučavanje regulacije ekspresije i funkcije humanih SOX gena (RS-MESTD-MPN2006-2010-143028)
DOI: 10.1007/s00431-007-0632-7
ISSN: 0340-6199
PubMed: 18040716
WoS: 000258609400014
Scopus: 2-s2.0-50249181672
Institucija/grupa
Institut za molekularnu genetiku i genetičko inženjerstvoTY - 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 . .