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, BH2
Stavropoulos, J1 2
Marshall, CR2
Weksberg, R1 2
Scherer, SW1 2
Yoon, G2
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
2011 Impact Factor: 2.391
2011 SCImago Journal Rankings: 0.261
DOIhttp://dx.doi.org/10.1002/ajmg.a.33821
ISI Accession Number IDWOS:000287153700028
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 2.391
2011 SCImago Journal Rankings: 0.261
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
Author Affiliations
  1. University of Toronto
  2. Hospital for Sick Children, Toronto