| Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome. | |
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MedLine Citation:
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PMID: 18076104 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on the clinical phenotype of an infant with a duplication of the terminal portion of the long arm of chromosome 3(q26.3-qter) and a deletion of the terminal portion of the short arm of chromosome 4(p16.3) with multiple hemangiomas and a hamartoma. Patients with deletions of distal 4p have the characteristic features of Wolf-Hirschhorn syndrome (WHS); whereas those with the distal duplication of 3q have a well recognized syndrome with some features resembling Cornelia-de Lange syndrome (CdLS). Neither of these recognized chromosomal anomalies has been reported previously to be associated with multiple hemangiomas or other vascular malformations. |
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Authors:
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Sherly Pardo; Netta Blitman; Bokyung Han; Ninette Cohen; Lisa Edelmann; Kurt Hirschhorn |
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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: 146A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2008 Jan |
Date Detail:
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Created Date: 2007-12-26 Completed Date: 2008-02-25 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: 219-24 Citation Subset: IM |
Copyright Information:
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(c) 2007 Wiley-Liss, Inc. |
Affiliation:
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Genetic & Genomic Sciences, Mount Sinai Medical Center, New York, New York 10029, USA. sherly.pardo@mssm.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Deletion Chromosomes, Human, Pair 3* Chromosomes, Human, Pair 4* Hemangioma / diagnosis*, genetics* Humans Infant Male Translocation, Genetic* Trisomy Wolf-Hirschhorn Syndrome / diagnosis*, genetics |
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