Navegando por Palavras-chave "Dandy-walker cyst"

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    A patient with tetrasomy-9p, dandy-walker cyst and hirschsprung disease
    (Expansion Sci Francaise, 1992-01-01) 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]; Universidade Federal de São Paulo (UNIFESP); HOSP INFANTIL DARCY; INST BUTANTAN
    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.