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22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil

Rosa, Rafael F.M. ; Pilla, Carlo B. ; Pereira, Vera L.B. ; Flores, José A.M. ; Golendziner, Eliete ; Koshiyama, Dayane B. ; Hertz, Michele T. ; Ricachinevsky, Cláudia P. ; Roman, Tatiana ; Varella-Garcia, Marileila ; Paskulin, Giorgio A.

American journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1655-1661 [Periódico revisado por pares]

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Título:
22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil
Autor: Rosa, Rafael F.M. ; Pilla, Carlo B. ; Pereira, Vera L.B. ; Flores, José A.M. ; Golendziner, Eliete ; Koshiyama, Dayane B. ; Hertz, Michele T. ; Ricachinevsky, Cláudia P. ; Roman, Tatiana ; Varella-Garcia, Marileila ; Paskulin, Giorgio A.
Assuntos: 22q11.2 deletion syndrome ; 22q11.2 microdeletion ; Abnormalities, Multiple - genetics ; Biological and medical sciences ; Brazil ; Child ; chromosome 22 ; Chromosome Deletion ; Chromosomes, Human, Pair 22 - genetics ; Cohort Studies ; congenital heart defects ; conotruncal heart defects ; Craniofacial Abnormalities - genetics ; DiGeorge syndrome ; Female ; FISH ; Heart Defects, Congenital - diagnostic imaging ; Heart Defects, Congenital - genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Intensive Care Units, Pediatric ; Male ; Medical genetics ; Medical sciences ; Pregnancy ; Prospective Studies ; Syndrome ; Ultrasonography, Prenatal
É parte de: American journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1655-1661
Notas: ark:/67375/WNG-XG0DZ65N-X
ArticleID:AJMG32378
How to cite this article: Rosa RFM, Pilla CB, Pereira VLB, Flores JAM, Golendziner E, Koshiyama DB, Hertz MT, Ricachinevsky CP, Roman T, Varella-Garcia M, Paskulin GA. 2008. 22q11.2 Deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil. Am J Med Genet Part A 146A:1655-1661.
istex:5E89B43EECB9C1B8D365F341E7371C10648BE616
How to cite this article: Rosa RFM, Pilla CB, Pereira VLB, Flores JAM, Golendziner E, Koshiyama DB, Hertz MT, Ricachinevsky CP, Roman T, Varella‐Garcia M, Paskulin GA. 2008. 22q11.2 Deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil. Am J Med Genet Part A 146A:1655–1661.
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Descrição: The 22q11.2 deletion syndrome (22q11DS) is one of the most recognizable causes of congenital heart defects (CHDs), but the frequency varies in non‐selected populations. The purpose of this study was to determine the incidence and clinical features of patients with CHD and 22q11DS admitted to a pediatric cardiology intensive care unit in Brazil. In a prospective study, we evaluated a consecutive series of 207 patients with a CHD following a clinical protocol and cytogenetic analysis by high resolution karyotype and fluorescent in situ hybridization (FISH). 22q11DS was identified in four patients (2%), a frequency similar to studies that evaluated subjects with major CHDs in other countries. Despite this similarity, we believe that the low rate of prenatal identification of CHDs and the limited access of these patients to appropriate diagnosis and care, which occur in our region, could have had an influence on this frequency. It is possible that 22q11DS patients with a severe CHD could have died before having a chance to access a tertiary hospital, leading to an underestimate of its frequency. © 2008 Wiley‐Liss, Inc.
Editor: Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Idioma: Inglês

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22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil

Rosa, Rafael F.M. ; Pilla, Carlo B. ; Pereira, Vera L.B. ; Flores, José A.M. ; Golendziner, Eliete ; Koshiyama, Dayane B. ; Hertz, Michele T. ; Ricachinevsky, Cláudia P. ; Roman, Tatiana ; Varella-Garcia, Marileila ; Paskulin, Giorgio A.

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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