Chromosomal Aberration in Inborn Cardiac Defects and their Diagnosis Using the FISH Method
Authors:
E. Kočárek 1; A. Puchmajerová 1; T. Klein 2; P. Goetz 1; D. Rašková 1; T. Maříková 1; M. Malíková 1; E. Seemanová 1; M. Němečková 3
Authors‘ workplace:
Ústav biologie a lékařské genetiky 2. LF UK, FNsP v Motole, Praha, 1přednosta prof. MUDr. P. Goetz, CSc. Dětské kardiocentrum, FNsP v Motole, Praha, 2primář MUDr. J. ŠkovránekKatedra mikrobiologie a genetiky Přírodovědecké fakulty UK, Praha, 3přednosta pr
Published in:
Čes-slov Pediat 1999; (3): 127-133.
Category:
Overview
Microdeletion of chromosome 22q11 is one of the common chromosomal abnormalities associated with inborncardiac defects. The frequency of this microdeletion syndrome is very high. Its phenotype is associated with veryserious feature (cardiac defects, in certain cases thymic aplasia, immunodeficiency, hypocalcemia, hypoparathy-roidism and cleft palate). The FISH (fluorescent in situ hybridization) method ensures reliable detection ofmicrodeletion 22q11. According to results of our molecular cytogenetic studies microdeletion 22q11 was detectedroughly in 30 % of patients with inborn cardiac defects and some other phenotypic signs. Most frequent cardiacdefects associated with 22q11 microdeletion are tetralogy of Fallot and interrupted aortic arch. In two cases otherchromosomal aberrations were found - mosaics 45,X/46,XY and 45,X/46,XX/47,Xder(X).
Key words:
inborn cardiac defects, Di George syndrome, microdeletion 22q11, CATCH-22, FISH, gonosomalaneuploidy
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
1999 Issue 3
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