Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

Research Article, J Genet Disor Genet Rep Vol: 5 Issue: 4

Chromosome 22q11.2 and 7q11.23 Microdeletions in Children with Congenital Heart Defects Detected by Fish Technique

Mirea AM1*, Popp RA1, Lazea C1,3, Cuzmici Z1, Al Khzouz C1,2, Bucerzan S1,2, Nascu2, Man S1,4, Iurian S5, Miclea DL1
1Iuliu Hatieganu University of Medicine and Pharmacy, Romania
2Center of Genetic Diseases, Emergency Children’s Hospital, Romania
3Pediatric Clinic, Emergency Children’s Hospital, Romania
4Pediatric Clinic, Emergency Children’s Hospital, Cluj Napoca, Romania
5Lucian Blaga University, Pediatric Clinic Hospital, Sibiu
Corresponding author : Andreea-Manuela Mirea
Department of Molecular Sciences, Iuliu Hatieganu University of Medicine and Pharmacy, Romania
Tel: +31611465428
E-mail: [email protected]
Received: June 16, 2016 Accepted: August 11, 2016 Published: August 17,2016
Citation: Mirea AM, Popp RA, Lazea C, Cuzmici Z, Al Khzouz C, et al. (2016) Chromosome 22q11.2 and 7q11.23 Microdeletions in Children with Congenital Heart Defects Detected by Fish Technique. J Genet Disor Genet Rep 5:4. doi:10.4172/2327-5790.1000142

Abstract

Congenital heart defects (CHD) are the most common birth abnormalities and the leading non-infectious cause of mortality in infants. CHD may occur as a single abnormality or as part of a syndrome. Two of the associated syndromes are DiGeorge and Williams-Beuren. DiGeorge (DGS) syndrome is a variant of 22q11.2 microdeletion syndrome and is known as CATCH22 syndrome (cardiac abnormalities, anomalies of the face, thymus hypoplasia, cleft-palate and hypocalcemia). The most associated CHD are conotruncal defects. Williams-Beuren syndrome (WBS) is also a microdeletional syndrome characterised by CHD, facial abnormalities, neonatal hypocalcemia, neurological and behavioural disorders. The most associated CHD are the supravalvular aortic stenosis and supravalvular pulmonary stenosis. FISH (Fluorescence in Situ Hybridization) technique is now the standard investigation for the diagnosis of microdeletional syndromes. This study shows the importance of FISH analysis in patients with syndromic congenital disease.

Keywords: FISH; DGS; WBS; CHD

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