| Co-occurrence of Prader-Willi and Sotos syndromes. | |
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MedLine Citation:
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PMID: 20635407 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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A patient with atypical phenotypes of Prader-Willi syndrome (PWS) was subjected to investigate genomic copy numbers by microarray-based comparative genomic hybridization analysis. Severe developmental delay, relative macrocephaly, protruding forehead, cardiac anomalies, and hydronephrosis were atypical for PWS. Concurrent deletions of 15q11-13 and 5q35 regions were revealed and identified as paternally derived. The sizes and locations of the two deletions were typical for both deletions. Although each deletion independently contributed to the clinical features, developmental disturbance was very severe, suggesting combined effects. This is the first report of co-occurrence of PWS and STS. The co-occurrence of two syndromes is likely incidental. |
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Authors:
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Nobuhiko Okamoto; Noriko Akimaru; Keiko Matsuda; Yasuhiro Suzuki; Keiko Shimojima; Toshiyuki Yamamoto |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-27 Completed Date: - Revised Date: - |
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: 2103-9 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. okamoto@osaka.email.ne.jp |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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