A PATIENT WITH TETRASOMY-9P, DANDY-WALKER CYST AND HIRSCHSPRUNG DISEASE

A PATIENT WITH TETRASOMY-9P, DANDY-WALKER CYST AND HIRSCHSPRUNG DISEASE

Author Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Brunoni, Decio Autor UNIFESP Google Scholar
Patricio, Francy Reis da Silva Autor UNIFESP Google Scholar
Corbani, M. Google Scholar
Mustacchi, Z. Google Scholar
Dossantos, RDS Google Scholar
Lederman, Henrique Manoel Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
HOSP INFANTIL DARCY
INST BUTANTAN
Abstract 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.
Keywords TETRASOMY-9P
DANDY-WALKER CYST
HIRSCHSPRUNG DISEASE
Language English
Date 1992-01-01
Published in Annales De Genetique. Paris: Expansion Sci Francaise, v. 35, n. 2, p. 79-84, 1992.
ISSN 0003-3995 (Sherpa/Romeo, impact factor)
Publisher Expansion Sci Francaise
Extent 79-84
Access rights Closed access
Type Article
Web of Science ID WOS:A1992JJ62600003
URI http://repositorio.unifesp.br/11600/42551

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