| Autor: |
C, Turleau, M, Doussau de Bazignan, M, Roubin, J, de Grouchy |
| Jazyk: |
francouzština |
| Rok vydání: |
1976 |
| Předmět: |
|
| Zdroj: |
Annales de genetique. 19(1) |
| ISSN: |
0003-3995 |
| Popis: |
A previously reported male infant having died at 4 months, was considered trisomic Cp, his mother being carrier of balanced translocation t(Cp-;Bq +). Reexamination of the chromosome complement after R-banding showed the translocation to be t(4;10)(q35;p11). The propositus was therefore trisomic 10p. The essential clinical features were: a small birth weight and a short birth length; hypotonia; psychomotor retardation; dolichocephalia; a high and bulky forehead; narrow lips; large, lowset ears with a posterior rotation; a small chin; bone and joint anomalies; dextrocardia. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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