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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
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

 

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.rightsThe final publication is available at www.degruyter.com-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
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.publisher.placeGermany-

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