| 46,XY/48,XYYY mosaicism case report and review of the literature. | |
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MedLine Citation:
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PMID: 7888137 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 46,XY (18.9%)/48,XYYY (81.1%) mosaicism in lymphocytes and a 48,XYYY karyotype in skin fibroblasts were found in a 37-year-old obese man suffering from dysplasia of the right hip. As other reported cases, he showed mental retardation and behaviour disturbances with agressiveness, sexual impulsions. Testicular biopsy revealed fibrohyalinization in about 10% of the tubules and subnormal spermatogenesis in the others. |
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Authors:
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M Teyssier; G Pousset |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Genetic counseling (Geneva, Switzerland) Volume: 5 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 1994 |
Date Detail:
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Created Date: 1995-04-20 Completed Date: 1995-04-20 Revised Date: 2006-07-06 |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: SWITZERLAND |
Other Details:
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Languages: eng Pagination: 357-61 Citation Subset: IM |
Affiliation:
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Laboratoire d'Histologie-Embryologie-Biologie de la reproduction, Faculté de Médecine Lyon-Nord, Lyon. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Biopsy Hip Dislocation, Congenital / diagnosis, genetics* Humans Karyotyping Male Mental Retardation / diagnosis, genetics* Mosaicism / genetics* Oligospermia / diagnosis, genetics* Sex Chromosome Aberrations / genetics* Testis / pathology Y Chromosome* |
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