| Uniparental disomies 7 and 14. | |
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MedLine Citation:
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PMID: 21396576 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Normally, one inherits one chromosome of each pair from one parent and the second chromosome from the other parent. Uniparental disomy (UPD) describes the inheritance of both homologues of a chromosome pair from the same parent. The biological basis of UPD syndromes is disturbed genomic imprinting. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. Phenotypes range from unapparent to unmasking of an autosomal-recessive disease to presentation as a syndromic imprinting disorder. Whilst paternal UPD(7) is clinically unapparent, maternal UPD(7) is one of several causes of Silver-Russell syndrome. Presentation of paternal UPD(14) ("Kagami syndrome") is a thoracic dysplasia syndrome with mental retardation and limited survival. Findings in maternal UPD(14) ("Temple") syndrome show an age-dependent overlap with the well-known maternal UPD(15) (Prader-Willi) syndrome and are dominated by initial failure to thrive followed by obesity, learning difficulties and precocious puberty. Diagnostic strategies to tackle the genetic heterogeneity of UPD(7) and UPD(14) syndromes will be explained. Management issues in UPD(7) and UPD(14) patients will be discussed, and finally areas requiring further research will be outlined. |
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Authors:
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Katrin Hoffmann; Raoul Heller |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Best practice & research. Clinical endocrinology & metabolism Volume: 25 ISSN: 1532-1908 ISO Abbreviation: Best Pract. Res. Clin. Endocrinol. Metab. Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-03-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101120682 Medline TA: Best Pract Res Clin Endocrinol Metab Country: Netherlands |
Other Details:
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Languages: eng Pagination: 77-100 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Ltd. All rights reserved. |
Affiliation:
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Institute of Medical Genetics, Campus Virchow-Klinikum, Charité, Augustenburger Platz 1, 13353 Berlin, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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