Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1) |
| |
Authors: | L'Herminé A Coulomb Aboura A Simon-Bouy B Robin F Audibert F Strouk N Capron F Frydman R Tachdjian G |
| |
Institution: | Service d'Anatomie Pathologique, H?pital Antoine Béclère, Clamart, France. |
| |
Abstract: | Interstitial deletions of chromosomal region 9q are rarely seen. We report the first prenatal diagnosis of a de novo interstitial deletion 9q. The fetus was karyotyped for intrauterine growth retardation (IUGR). Conventional and molecular cytogenetics showed female karyotype with a de novo deletion of the chromosomal region 9(q22.2q31.1) leading to a partial monosomy 9q. At autopsy, the fetus showed growth retardation, dysmorphy, and a female pseudohermaphroditism. These results suggest that a gene(s) for genital development reside in chromosomal region 9q22.2q31.1. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|