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Updated: Sep 29, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)
A Coulomb L'Herminé1, A Aboura, B Simon-Bouy
1Service d'Anatomie Pathologique, Hôpital 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.
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