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...

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Bibliographic Details
Published in:Prenatal diagnosis 2002-08, Vol.22 (8), p.652-655
Main Authors: Coulomb L'Herminé, A., Aboura, A., Simon-Bouy, B., Robin, F., Audibert, F., Strouk, N., Capron, F., Frydman, R., Tachdjian, G.
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
CGH
chromosome 9
Chromosome aberrations
Chromosome Banding
Chromosomes, Human, Pair 9
Congenital Abnormalities - genetics
deletion
Disorders of Sex Development - diagnosis
Disorders of Sex Development - genetics
Female
female pseudohermaphroditism
Fetal Growth Retardation - genetics
Gene Deletion
Gestational Age
Gynecology. Andrology. Obstetrics
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance
Medical genetics
Medical sciences
Nucleic Acid Hybridization
Ovary - enzymology
Pregnancy
prenatal diagnosis
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Summary: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. Copyright © 2002 John Wiley & Sons, Ltd.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.353