Document Detail

De Novo Interstitial Deletion of Chromosome 2 (p23p24).
MedLine Citation:
PMID:  21385658     Owner:  NLM     Status:  In-Data-Review    
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.
Pen-Hua Su; Jia-Yuh Chen; Teng-Fu Tsao; Suh-Jen Chen
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Publication Detail:
Type:  Journal Article     Date:  2011-02-18
Journal Detail:
Title:  Pediatrics and neonatology     Volume:  52     ISSN:  1875-9572     ISO Abbreviation:  Pediatr Neonatol     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-03-09     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101484755     Medline TA:  Pediatr Neonatol     Country:  Singapore    
Other Details:
Languages:  eng     Pagination:  46-50     Citation Subset:  IM    
Copyright Information:
Copyright © 2011. Published by Elsevier B.V.
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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