Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1).
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.
L'Herminé
A Coulomb
AC
Service d'Anatomie Pathologique, Hôpital Antoine Béclère, Clamart, France.
Aboura
A
A
Simon-Bouy
B
B
Robin
F
F
Audibert
F
F
Strouk
N
N
Capron
F
F
Frydman
R
R
Tachdjian
G
G
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