Chromosome 22 microdeletion by F.I.S.H. in isolated congenital heart disease.
Indian J Pediatr
;
2006 Oct; 73(10): 885-8
Artigo
em Inglês
| IMSEAR
| ID: sea-81410
ABSTRACT
OBJECTIVE:
To analyze the frequency of del22q11.2 in non-syndromic CHDs using classical cytogenetics and Fluorescence In Situ Hybridization (FISH) technique in Indian population.METHODS:
105 prospective cases which included 6 families with isolated, non-syndromic cardiac defects were analyzed clinically by a cardiologist and a geneticist. The cases were then subjected to karyotypic (classical cytogenetics) as well as FISH analysis. The efficacy of FISH technique was compared with inference drawn from classical cytogenetics.RESULTS:
Karyotypic analysis of all the 105 patients revealed a normal chromosomal complement. Microdeletion 22q11.2 was observed in six patients (5.71%) by FISH studies. FISH studies were also performed on the parents of these six patients who revealed a normal chromosome 22. No correlation was found between clinical features (mild or unspecific) with 22q11.2 microdeletion.CONCLUSION:
The testing for microdeletion 22q11.2 in isolated non-syndromic patients using FISH technique is mandatory even when mild/unspecific extracardiac abnormalities are seen in the patients.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Cromossomos Humanos Par 22
/
Humanos
/
Recém-Nascido
/
Criança
/
Pré-Escolar
/
Deleção Cromossômica
/
Adolescente
/
Hibridização in Situ Fluorescente
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Adulto
/
Cardiopatias Congênitas
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2006
Tipo de documento:
Artigo
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