| Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes. | |
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MedLine Citation:
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PMID: 18798309 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature. |
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Authors:
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Leslie Domenici Kulikowski; Fernanda T S Bellucco; Sintia I Nogueira; Denise M Christofolini; Marilia de A C Smith; Claudia B de Mello; Decio Brunoni; Maria Isabel Melaragno |
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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: 146A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2008 Oct |
Date Detail:
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Created Date: 2008-09-30 Completed Date: 2008-11-12 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: 2663-7 Citation Subset: IM |
Copyright Information:
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2008 Wiley-Liss, Inc. |
Affiliation:
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Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, SP, Brazil. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Child Child, Preschool Chromosome Aberrations* Chromosome Banding Chromosome Disorders / genetics* Chromosome Painting Chromosomes, Artificial, Bacterial Chromosomes, Human, Pair 1 / genetics* Cytogenetic Analysis Humans Infant Infant, Newborn Male Mental Retardation / genetics Syndrome Trisomy / genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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