A patient with tetrasomy-9p, dandy-walker cyst and hirschsprung disease

Melaragno, Maria Isabel [UNIFESP]; Brunoni, Decio [UNIFESP]; Patricio, Francy Reis da Silva [UNIFESP]; Corbani, Mariza; Mustacchi, Zan; Stocco, Rita de Cassia; Lederman, Henrique Manoel [UNIFESP]

A patient with tetrasomy-9p, dandy-walker cyst and hirschsprung disease

Data

1992-01-01

Autores

Melaragno, Maria Isabel

Brunoni, Decio

Patricio, Francy Reis da Silva

Corbani, Mariza

Mustacchi, Zan

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Tipo

Artigo

Resumo

The authors report on a patient with tetrasomy 9p and 9qh due a karyotype 47,XY,+dic(9)(q12) in lymphocytes and a normal karyotype in fibroblasts. Clinical and complementary investigation revealed a malformation syndrome with many anomalies like those of trisomy 9p as well as Dandy-Walker cyst and Hirschsprung disease not previously described in tetrasomy 9p.

Citação

Annales De Genetique. Paris: Expansion Sci Francaise, v. 35, n. 2, p. 79-84, 1992.