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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

Title2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
Authors
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
Citation
American Journal Of Medical Genetics, Part A, 2011, v. 155 n. 2, p. 424-429 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/142447
ISSN
2014 Impact Factor: 2.159
2014 SCImago Journal Rankings: 1.042
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChung, BHen_HK
dc.contributor.authorStavropoulos, Jen_HK
dc.contributor.authorMarshall, CRen_HK
dc.contributor.authorWeksberg, Ren_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorYoon, Gen_HK
dc.date.accessioned2011-10-28T02:46:15Z-
dc.date.available2011-10-28T02:46:15Z-
dc.date.issued2011en_HK
dc.identifier.citationAmerican Journal Of Medical Genetics, Part A, 2011, v. 155 n. 2, p. 424-429en_HK
dc.identifier.issn1552-4825en_HK
dc.identifier.urihttp://hdl.handle.net/10722/142447-
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.en_HK
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.htmlen_HK
dc.relation.ispartofAmerican Journal of Medical Genetics, Part Aen_HK
dc.rightsAmerican Journal of Medical Genetics Part A. Copyright © John Wiley & Sons, Inc.en_US
dc.subjectDevelopmental delayen_HK
dc.subjectIntellectual disabilityen_HK
dc.subjectMBD5en_HK
dc.subjectMicrodeletion 2q23.1en_HK
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.title2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial featuresen_HK
dc.typeArticleen_HK
dc.identifier.emailChung, BH:bhychung@hku.hken_HK
dc.identifier.authorityChung, BH=rp00473en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.a.33821en_HK
dc.identifier.pmid21271666-
dc.identifier.scopuseid_2-s2.0-79251528582en_HK
dc.identifier.hkuros184327en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79251528582&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume155en_HK
dc.identifier.issue2en_HK
dc.identifier.spage424en_HK
dc.identifier.epage429en_HK
dc.identifier.isiWOS:000287153700028-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridChung, BH=7203043997en_HK
dc.identifier.scopusauthoridStavropoulos, J=37162261600en_HK
dc.identifier.scopusauthoridMarshall, CR=7201903397en_HK
dc.identifier.scopusauthoridWeksberg, R=7006112330en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridYoon, G=23020466100en_HK

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