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Article: Prenatal Diagnosis of Agenesis of the Corpus Callosum and Cerebellar Vermian Hypoplasia Associated with a Microdeletion on Chromosome 1p32

TitlePrenatal Diagnosis of Agenesis of the Corpus Callosum and Cerebellar Vermian Hypoplasia Associated with a Microdeletion on Chromosome 1p32
Authors
KeywordsAgenesis of the corpus callosum
Array CGH
Microdeletion
Prenatal diagnosis
Issue Date2013
PublisherWalter de Gruyter GmbH & Co. KG. The Journal's web site is located at http://www.degruyter.com/view/j/crpm?rskey=0vOGd1&result=140&q=
Citation
Case Reports in Perinatal Medicine, 2013, v. 2 n. 1-2, p. 39-45 How to Cite?
AbstractWe present the prenatal detection of a 1p32.1p31.3 microdeletion (3.46 Mb) by array comparative genomic hybridization (CGH) associated with fetal agenesis of the corpus callosum (ACC) and cerebellar vermian hypoplasia. Analysis of cultured amniocytes showed a normal karyotype. Our observations strengthen the association between this locus and central nervous system development. In addition, the fetus reported herein underscores the importance of array CGH analysis when ACC is detected prenatally, especially when there are additional central nervous system anomalies, to search for submicroscopic imbalances which can facilitate further management and parental counselling. Moreover, the presence of urinary tract anomalies should alert the clinician to the possibility of a 1p interstitial deletion, although the absence of such does not exclude it. Further reports will help to provide more information on the long-term outcomes of individuals with such microdeletion as there are only limited data.
Persistent Identifierhttp://hdl.handle.net/10722/181688
ISSN
2023 Impact Factor: 0.1
2019 SCImago Journal Rankings: 0.108
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorShek, NWM-
dc.contributor.authorTan, TY-
dc.contributor.authorDing, SCK-
dc.contributor.authorChung, BHY-
dc.contributor.authorLau, ETK-
dc.contributor.authorTang, MHY-
dc.date.accessioned2013-03-19T03:54:15Z-
dc.date.available2013-03-19T03:54:15Z-
dc.date.issued2013-
dc.identifier.citationCase Reports in Perinatal Medicine, 2013, v. 2 n. 1-2, p. 39-45-
dc.identifier.issn2192-8932-
dc.identifier.urihttp://hdl.handle.net/10722/181688-
dc.description.abstractWe present the prenatal detection of a 1p32.1p31.3 microdeletion (3.46 Mb) by array comparative genomic hybridization (CGH) associated with fetal agenesis of the corpus callosum (ACC) and cerebellar vermian hypoplasia. Analysis of cultured amniocytes showed a normal karyotype. Our observations strengthen the association between this locus and central nervous system development. In addition, the fetus reported herein underscores the importance of array CGH analysis when ACC is detected prenatally, especially when there are additional central nervous system anomalies, to search for submicroscopic imbalances which can facilitate further management and parental counselling. Moreover, the presence of urinary tract anomalies should alert the clinician to the possibility of a 1p interstitial deletion, although the absence of such does not exclude it. Further reports will help to provide more information on the long-term outcomes of individuals with such microdeletion as there are only limited data.-
dc.languageeng-
dc.publisherWalter de Gruyter GmbH & Co. KG. The Journal's web site is located at http://www.degruyter.com/view/j/crpm?rskey=0vOGd1&result=140&q=-
dc.relation.ispartofCase Reports in Perinatal Medicine-
dc.rights© 2013 by Walter de Gruyter Berlin Boston. The final publication is available at www.degruyter.com-
dc.subjectAgenesis of the corpus callosum-
dc.subjectArray CGH-
dc.subjectMicrodeletion-
dc.subjectPrenatal diagnosis-
dc.titlePrenatal Diagnosis of Agenesis of the Corpus Callosum and Cerebellar Vermian Hypoplasia Associated with a Microdeletion on Chromosome 1p32-
dc.typeArticle-
dc.identifier.emailShek, NWM: sheknoel@hku.hk-
dc.identifier.emailTan, TY: tanty@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.emailLau, ETK: etklau@hkucc.hku.hk-
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hk-
dc.identifier.authorityTan, TY=rp01380-
dc.identifier.authorityChung, BHY=rp00473-
dc.identifier.authorityTang, MHY=rp01701-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1515/crpm-2012-0032-
dc.identifier.hkuros213591-
dc.identifier.volume2-
dc.identifier.issue1-2-
dc.identifier.spage39-
dc.identifier.epage45-
dc.identifier.isiWOS:000422585500010-
dc.publisher.placeGermany-
dc.identifier.issnl2192-8932-

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