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Interstitial deletions of the short arm of chromosome 4 in a patient with mental retardation and focal seizure.
MedLine Citation:
PMID:  21703560     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We describe a girl diagnosed with moderate mental retardation and seizures with an interstitial deletion of the short arm of chromosome 4 [46, XX, del(4)(p12p15.2)].
Authors:
Pen-Hua Su; Inn-Chi Lee; Jia-Yuh Chen; Suh-Jen Chen; Ju-Shan Yu; Teng-Fu Tsao
Publication Detail:
Type:  Journal Article     Date:  2011-04-12
Journal Detail:
Title:  Pediatrics and neonatology     Volume:  52     ISSN:  1875-9572     ISO Abbreviation:  Pediatr Neonatol     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-06-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101484755     Medline TA:  Pediatr Neonatol     Country:  Singapore    
Other Details:
Languages:  eng     Pagination:  165-8     Citation Subset:  IM    
Copyright Information:
Copyright © 2011. Published by Elsevier B.V.
Affiliation:
Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan; School of Medicine, Chung Shan Medical University, Taichung, Taiwan.
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