| Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes. | |
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MedLine Citation:
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PMID: 19842199 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3 months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement. |
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Authors:
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Ascensi??n Vera-Carbonell; Juan Antonio Bafalliu; Encarna Guill??n-Navarro; Ariadna Escalona; Mar??a J Ballesta-Mart??nez; Carme Fuster; Asunci??n Fern??ndez; Isabel L??pez-Exp??sito |
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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: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Nov |
Date Detail:
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Created Date: 2009-11-05 Completed Date: 2010-01-06 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: 2513-21 Citation Subset: IM |
Copyright Information:
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Copyright 2009 Wiley-Liss, Inc. |
Affiliation:
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Secci??n de Citogen??tica, Centro de Bioqu??mica y Gen??tica Cl??nica, Hospital U. Virgen de la Arrixaca, El Palmar, Murcia, Spain. ascension.vera3@carm.es |
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Chromosome Aberrations* Chromosome Banding Chromosomes, Artificial, Bacterial / genetics Chromosomes, Human, Pair 5 / genetics* Cri-du-Chat Syndrome / genetics* Fatal Outcome Female Humans In Situ Hybridization, Fluorescence Infant, Newborn Male Meiosis Phenotype Pregnancy Syndrome Trisomy / genetics* |
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