| Autor: |
Turleau C, Doussau de Bazignan M, Roubin M, de Grouchy J |
| Jazyk: |
francouzština |
| Zdroj: |
Annales de genetique [Ann Genet] 1976 Mar; Vol. 19 (1), pp. 61-4. |
| Abstrakt: |
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: |
MEDLINE |
| Externí odkaz: |
|
