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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2002-9-4
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pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0197-3851
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2002 John Wiley & Sons, Ltd.
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pubmed:issnType |
Print
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pubmed:volume |
22
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
652-5
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:12210571-Adult,
pubmed-meshheading:12210571-Chromosome Banding,
pubmed-meshheading:12210571-Chromosomes, Human, Pair 9,
pubmed-meshheading:12210571-Congenital Abnormalities,
pubmed-meshheading:12210571-Disorders of Sex Development,
pubmed-meshheading:12210571-Female,
pubmed-meshheading:12210571-Fetal Growth Retardation,
pubmed-meshheading:12210571-Gene Deletion,
pubmed-meshheading:12210571-Gestational Age,
pubmed-meshheading:12210571-Humans,
pubmed-meshheading:12210571-In Situ Hybridization, Fluorescence,
pubmed-meshheading:12210571-Karyotyping,
pubmed-meshheading:12210571-Nucleic Acid Hybridization,
pubmed-meshheading:12210571-Ovary,
pubmed-meshheading:12210571-Pregnancy
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pubmed:year |
2002
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pubmed:articleTitle |
Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1).
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pubmed:affiliation |
Service d'Anatomie Pathologique, Hôpital Antoine Béclère, Clamart, France.
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pubmed:publicationType |
Journal Article,
Case Reports
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