Frequency of 22q11.2 microdeletion in children with congenital heart defects in western polandReportar como inadecuado

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BMC Pediatrics

, 10:88

First Online: 06 December 2010Received: 30 August 2010Accepted: 06 December 2010


BackgroundThe 22q11.2 microdeletion syndrome 22q11.2 deletion syndrome -22q11.2DS refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1-4000 births. The aim of this study was to determine the frequency of 22q11.2 microdeletion in 87 children suffering from a congenital heart defect conotruncal or non-conotruncal coexisting with at least one additional 22q11.2DS feature and to carry out 22q11.2 microdeletion testing of the deleted children-s parents. We also attempted to identify the most frequent heart defects in both groups and phenotypic traits of patients with microdeletion to determine selection criteria for at risk patients.

MethodsThe analysis of microdeletions was conducted using fluorescence in situ hybridization FISH on metaphase chromosomes and interphase nuclei isolated from venous peripheral blood cultures. A molecular probe Tuple specific to the HIRA TUPLE1, DGCR1 region at 22q11 was used for the hybridisation.

ResultsMicrodeletions of 22q11.2 region were detected in 13 children with a congenital heart defect 14.94% of the examined group. Microdeletion of 22q11.2 occurred in 20% and 11.54% of the conotruncal and non-conotruncal groups respectively. Tetralogy of Fallot was the most frequent heart defect in the first group of children with 22q11.2 microdeletion, while ventricular septal defect and atrial septal defect-ventricular septal defect were most frequent in the second group. The microdeletion was also detected in one of the parents of the deleted child 6.25% without congenital heart defect, but with slight dysmorphism. In the remaining children, 22q11.2 microdeletion originated de novo.

ConclusionsPatients with 22q11.2DS exhibit wide spectrum of phenotypic characteristics, ranging from discreet to quite strong. The deletion was inherited by one child. Our study suggests that screening for 22q11.2 microdeletion should be performed in children with conotruncal and non-conotruncal heart defects and with at least one typical feature of 22q11.2DS as well as in the deleted children-s parents.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2431-10-88 contains supplementary material, which is available to authorized users.

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Autor: Anna Wozniak - Danuta Wolnik-Brzozowska - Marzena Wisniewska - Renata Glazar - Anna Materna-Kiryluk - Tomasz Moszura - Magda


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