| Autor: |
M I, Melaragno, D, Brunoni, F R, Patrício, M, Corbani, Z, Mustacchi, R de C, dos Santos, H M, Lederman |
| Rok vydání: |
1992 |
| Předmět: |
|
| Zdroj: |
Annales de genetique. 35(2) |
| ISSN: |
0003-3995 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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