| Brain magnetic resonance imaging findings in 49,XXXXY syndrome. | |
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MedLine Citation:
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PMID: 18486832 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Klinefelter syndrome is a chromosomal disorder characterized by one or more supernumerary X chromosomes, in addition to the normal 46,XY male karyotype. Whereas classic Klinefelter syndrome (47,XXY) occurs in 1:400 births, the most severe Klinefelter variant (49,XXXXY) occurs in only 1:85,000 births. The degree of cognitive impairment, specific skeletal changes, and genital abnormalities in Klinefelter syndrome variants is thought to correlate with the number of additional X-chromosomes present. Magnetic resonance imaging studies in individuals with classic Klinefelter syndrome show smaller brain volumes, but magnetic resonance imaging data are lacking for individuals with rarer and more severe Klinefelter variants. We present case reports and magnetic resonance imaging studies on 3 individuals with 49,XXXXY. All 3 patients exhibited varying degrees of volume loss and abnormalities in white matter. Changes in white matter may represent a specific finding in patients with severe Klinefelter variants such as 49,XXXXY, and karyotype analysis should be considered in patients with unexplained white-matter disease, especially when developmental delay or genital abnormalities are present. |
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Authors:
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Trevor L Hoffman; Arastoo Vossough; Can Ficicioglu; Jeannie Visootsak |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Pediatric neurology Volume: 38 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-05-19 Completed Date: 2008-07-18 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 450-3 Citation Subset: IM |
Affiliation:
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Section of Biochemical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. thoffman@uci.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Brain / pathology* Child Development Chromosomes, Human, X Chromosomes, Human, Y Genitalia / abnormalities Humans Infant Klinefelter Syndrome / pathology*, psychology Magnetic Resonance Imaging Male Neuropsychological Tests Sex Chromosome Aberrations* |
| Grant Support | |
ID/Acronym/Agency:
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1 KL RR02 5009/RR/NCRR NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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