| Literature DB >> 1524413 |
M I Melaragno1, D Brunoni, F R Patrício, M Corbani, Z Mustacchi, R de C dos Santos, H M Lederman.
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.Entities:
Mesh：
Year: 1992 PMID： 1524413
Source DB: PubMed Journal: Ann Genet ISSN： 0003-3995