Low level of mosaicism in atypical Prader Willi syndrome: detection using fluorescent in situ hybridization.
Indian Pediatr
;
2003 Feb; 40(2): 166-8
Artigo
em Inglês
| IMSEAR
| ID: sea-13076
ABSTRACT
Prader Willi syndrome (PWS) most commonly is due to paternal micro-deletion of 15q11-q13. Although PWS is not a rare condition, mosaic micro-deletion cases are reported rarely. FISH using PWS micro-deletion probe is the most useful method to detect deletion including mosaicism. In this report we describe a female child with clinical features of atypical PWS and FISH analysis showing mosaicism for deletion in the PWS critical region. This is first mosaic deletion case of PWS from Indian subcontinent.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Síndrome de Prader-Willi
/
Feminino
/
Humanos
/
Criança
/
Hibridização in Situ Fluorescente
/
Mosaicismo
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2003
Tipo de documento:
Artigo
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