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Article: 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
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Title2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
 
AuthorsChung, BH3
Stavropoulos, J3 2
Marshall, CR1
Weksberg, R3 2
Scherer, SW1 2
Yoon, G3
 
KeywordsDevelopmental delay
Intellectual disability
MBD5
Microdeletion 2q23.1
 
Issue Date2011
 
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
 
CitationAmerican Journal Of Medical Genetics, Part A, 2011, v. 155 n. 2, p. 424-429 [How to Cite?]
DOI: http://dx.doi.org/10.1002/ajmg.a.33821
 
AbstractWe report on a female patient with a de novo interstitial deletion of chromosome region 2q23.1-23.3 identified by array-CGH. She had significant global delay with developmental regression at age 6 years. She developed seizures at age 3 years with progressive difficulties with balance, loss of fine motor skills and aggressive behavior. She had short stature, microcephaly, and distinct facial features. Her speech was dysarthric, and she demonstrated repetitive hand movements. In this article, we compare the clinical features of our patient with previously reported cases with a 2q23.1 deletion. © 2011 Wiley-Liss, Inc.
 
ISSN1552-4825
2012 Impact Factor: 2.304
2012 SCImago Journal Rankings: 1.026
 
DOIhttp://dx.doi.org/10.1002/ajmg.a.33821
 
ISI Accession Number IDWOS:000287153700028
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorChung, BH
 
dc.contributor.authorStavropoulos, J
 
dc.contributor.authorMarshall, CR
 
dc.contributor.authorWeksberg, R
 
dc.contributor.authorScherer, SW
 
dc.contributor.authorYoon, G
 
dc.date.accessioned2011-10-28T02:46:15Z
 
dc.date.available2011-10-28T02:46:15Z
 
dc.date.issued2011
 
dc.description.abstractWe report on a female patient with a de novo interstitial deletion of chromosome region 2q23.1-23.3 identified by array-CGH. She had significant global delay with developmental regression at age 6 years. She developed seizures at age 3 years with progressive difficulties with balance, loss of fine motor skills and aggressive behavior. She had short stature, microcephaly, and distinct facial features. Her speech was dysarthric, and she demonstrated repetitive hand movements. In this article, we compare the clinical features of our patient with previously reported cases with a 2q23.1 deletion. © 2011 Wiley-Liss, Inc.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationAmerican Journal Of Medical Genetics, Part A, 2011, v. 155 n. 2, p. 424-429 [How to Cite?]
DOI: http://dx.doi.org/10.1002/ajmg.a.33821
 
dc.identifier.doihttp://dx.doi.org/10.1002/ajmg.a.33821
 
dc.identifier.epage429
 
dc.identifier.hkuros184327
 
dc.identifier.isiWOS:000287153700028
 
dc.identifier.issn1552-4825
2012 Impact Factor: 2.304
2012 SCImago Journal Rankings: 1.026
 
dc.identifier.issue2
 
dc.identifier.pmid21271666
 
dc.identifier.scopuseid_2-s2.0-79251528582
 
dc.identifier.spage424
 
dc.identifier.urihttp://hdl.handle.net/10722/142447
 
dc.identifier.volume155
 
dc.languageeng
 
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
 
dc.publisher.placeUnited States
 
dc.relation.ispartofAmerican Journal of Medical Genetics, Part A
 
dc.relation.referencesReferences in Scopus
 
dc.rightsAmerican Journal of Medical Genetics Part A. Copyright © John Wiley & Sons, Inc.
 
dc.subject.meshAbnormalities, Multiple - genetics - pathology
 
dc.subject.meshChromosome Deletion
 
dc.subject.meshChromosomes, Human, Pair 2 - genetics
 
dc.subject.meshDNA-Binding Proteins - genetics
 
dc.subject.meshDevelopmental Disabilities - genetics - pathology
 
dc.subjectDevelopmental delay
 
dc.subjectIntellectual disability
 
dc.subjectMBD5
 
dc.subjectMicrodeletion 2q23.1
 
dc.title2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
 
dc.typeArticle
 
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Author Affiliations
  1. The Centre for Applied Genomics University of Toronto
  2. University of Toronto
  3. Hospital for Sick Children University of Toronto