| De Novo Interstitial Deletion of Chromosome 2 (p23p24). | |
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MedLine Citation:
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PMID: 21385658 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2-2p25.1 and three cases of 2p23.3-2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative genome hybridization. We present a clinical and cytogenetic report of a patient with psychomotor retardation, hearing impairment, and limb abnormalities. The obvious osseous fusion with bone marrow and cortex continuation between proximal parts of radius and ulna-congenital radioulnar synostosis-were first visualized by multidetector-row computed tomography scan. |
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Authors:
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Pen-Hua Su; Jia-Yuh Chen; Teng-Fu Tsao; Suh-Jen Chen |
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Publication Detail:
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Type: Journal Article Date: 2011-02-18 |
Journal Detail:
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Title: Pediatrics and neonatology Volume: 52 ISSN: 1875-9572 ISO Abbreviation: Pediatr Neonatol Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-03-09 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101484755 Medline TA: Pediatr Neonatol Country: Singapore |
Other Details:
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Languages: eng Pagination: 46-50 Citation Subset: IM |
Copyright Information:
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Copyright © 2011. Published by Elsevier B.V. |
Affiliation:
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Division of Neonatology, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan; Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan; Department of Pediatrics, School of Medicine, Chung Shan Medical University, Taichung, Taiwan. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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