| Concurrence of fragile X and Klinefelter syndromes: report of a new case of paternal nondisjunction. | |
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MedLine Citation:
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PMID: 12818531 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The concurrence of fragile X and Klinefelter syndromes would be expected occasionally. Therefore, the analysis of the literature showed that the concurrence of both conditions was found at least 16 times. Among them, only seven cases were analyzed for the parental origin of the extra chromosome X, suggesting that the maternal nondisjunction was preferentially inherited. We present the third patient with the concurrence of fragile X and Klinefelter syndromes, in which the parental origin of the supernumerary chromosome X was paternal. This finding reinforces that the parent-of-origin predisposition of the concurrence of the fragile X and Klinefelter syndromes is a pure coincidence. |
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Authors:
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Cíntia Barros Santos; Helle Hjalgrim; Flávia Raquel Gonçalves Carneiro; Márcia Ribeiro; Raquel Tavares Boy; Márcia Mattos Gonçalves Pimentel |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Annales de génétique Volume: 46 ISSN: 0003-3995 ISO Abbreviation: Ann. Genet. Publication Date: 2003 Jan-Mar |
Date Detail:
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Created Date: 2003-06-23 Completed Date: 2004-02-20 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0370562 Medline TA: Ann Genet Country: France |
Other Details:
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Languages: eng Pagination: 53-5 Citation Subset: IM |
Affiliation:
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Departamento de Biologia Celular e Genética, Instituto de Biologia Roberto Alcântara Gomes, Universidade do Estado do Rio de Janeiro, Rua São Francisco Xavier 524, PHLC, sala 218, Maracanã, 20550-013, Rio de Janeiro, Brazil. |
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adolescent Fathers Fragile X Syndrome / genetics* Humans Klinefelter Syndrome / genetics* Male Nondisjunction, Genetic* Pedigree |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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