Detection of 22 q11.2 hemizygous deletion by interphase FISH in a patient with features of CATCH 22 syndrome.
Indian Pediatr
;
2005 Dec; 42(12): 1236-9
Artigo
em Inglês
| IMSEAR
| ID: sea-8257
ABSTRACT
We report an eight years female child with clinical and molecular cytogenetic findings consistent with CATCH 22 syndrome characterized by cardiac defect, typical facial dysmorphism, mental deficiency and chromosome 22 q11.2 deletion. Interphase FISH with 22q 11.2 probe demonstrated hemizygous deletion in 98.5% nuclei. Interphase FISH for diagnosis of CATCH 22 syndrome has not been reported previously from India to our knowledge.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Síndrome
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 22
/
Feminino
/
Humanos
/
Criança
/
Deleção Cromossômica
/
Hibridização in Situ Fluorescente
/
Face
/
Cardiopatias Congênitas
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2005
Tipo de documento:
Artigo
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