| Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype. | |
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MedLine Citation:
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PMID: 12494438 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a 34-year-old developmentally disabled man referred to our clinic for evaluation of possible Prader-Willi syndrome on the basis of obesity and voracious appetite. Cytogenetic and molecular analysis revealed a 47, XYY karyotype and the presence of a trinucleotide repeat expansion resulting in fragile X syndrome. To our knowledge, this is the first report of concurrence of XYY and fragile X syndrome in the medical literature. Review of sex chromosome abnormalities associated with fragile X syndrome and phenotypic considerations are presented. |
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Authors:
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Heather J Stalker; Kory L Keller; Brian A Gray; Roberto T Zori |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 116A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2003 Jan |
Date Detail:
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Created Date: 2002-12-20 Completed Date: 2003-05-09 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 176-8 Citation Subset: IM |
Copyright Information:
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Copyright 2003 Wiley-Liss, Inc. |
Affiliation:
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Raymond C. Philips Unit and Division of Pediatric Genetics, University of Florida, Gainesville, USA. stalkhj@peds.ufl.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
pathology Adult Fragile X Syndrome / genetics, pathology* Humans Male Mental Retardation / pathology Obesity / pathology Phenotype Prader-Willi Syndrome / genetics, pathology* XYY Karyotype / genetics, pathology* |
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