title: Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1).
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.
authors.affiliation: Service d'Anatomie Pathologique, Hôpital Antoine Béclère, Clamart, France.
authors.forename: A Coulomb
authors.initials: AC
authors.lastname: L'Herminé
authors.forename: A
authors.initials: A
authors.lastname: Aboura
authors.forename: B
authors.initials: B
authors.lastname: Simon-Bouy
authors.forename: F
authors.initials: F
authors.lastname: Robin
authors.forename: F
authors.initials: F
authors.lastname: Audibert
authors.forename: N
authors.initials: N
authors.lastname: Strouk
authors.forename: F
authors.initials: F
authors.lastname: Capron
authors.forename: R
authors.initials: R
authors.lastname: Frydman
authors.forename: G
authors.initials: G
authors.lastname: Tachdjian
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9; D000013:Congenital Abnormalities / Q000235:genetics; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D017353:Gene Deletion; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D010053:Ovary / Q000201:enzymology; D011247:Pregnancy