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Article: Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 → qter) and partial monosomy 6q(6q26 → qter) by high-resolution array CGH

TitlePrenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 → qter) and partial monosomy 6q(6q26 → qter) by high-resolution array CGH
Authors
Issue Date2009
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/14767058.asp
Citation
Journal Of Maternal-Fetal And Neonatal Medicine, 2009, v. 22 n. 11, p. 1014-1020 How to Cite?
AbstractObjective.We investigated the application of microarray-based comparative genomic hybridization array CGH on a fetus showing hemivertebrae and intra-abdominal mass at 15 weeks. Methods. Conventional karyotyping and high-resolution array CGH techniques using 244K CGH microarray were performed to investigate the possibility of genomic imbalance on the opted chorionic villus sample. Results.G-banded fetal chromosome analysis showed 46,XY,der(6)t(6;7) (q26;q31.2)pat. Whole genome scan by array CGH fine mapped the origin of the aberrant chromosomes to be a partial single copy gain of 42.5 Mb from chromosome region 7:116266547 → qter and concurrent partial single copy loss of 8.1 Mb from chromosome region 6:162756975 → qter. Pathological examination of the abortus showed gastrointestinal malformations, hemivertebrae with scoliosis, clinodactyly and club feet. Conclusions.Prenatal and perinatal findings of concurrent trisomy 7q and monosomy 6q were unique. This study demonstrated array CGH can interrogate the entire genome at a resolution and rapidity unattainable by conventional cytogenetic techniques and may have wide application in prenatal diagnosis. © 2009 Informa Healthcare USA, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/180696
ISSN
2015 Impact Factor: 1.674
2015 SCImago Journal Rankings: 0.810
References

 

DC FieldValueLanguage
dc.contributor.authorChoy, KWen_US
dc.contributor.authorChan, LWen_US
dc.contributor.authorTang, MHYen_US
dc.contributor.authorNg, LKLen_US
dc.contributor.authorLeung, TYen_US
dc.contributor.authorLau, TKen_US
dc.date.accessioned2013-01-28T01:41:11Z-
dc.date.available2013-01-28T01:41:11Z-
dc.date.issued2009en_US
dc.identifier.citationJournal Of Maternal-Fetal And Neonatal Medicine, 2009, v. 22 n. 11, p. 1014-1020en_US
dc.identifier.issn1476-7058en_US
dc.identifier.urihttp://hdl.handle.net/10722/180696-
dc.description.abstractObjective.We investigated the application of microarray-based comparative genomic hybridization array CGH on a fetus showing hemivertebrae and intra-abdominal mass at 15 weeks. Methods. Conventional karyotyping and high-resolution array CGH techniques using 244K CGH microarray were performed to investigate the possibility of genomic imbalance on the opted chorionic villus sample. Results.G-banded fetal chromosome analysis showed 46,XY,der(6)t(6;7) (q26;q31.2)pat. Whole genome scan by array CGH fine mapped the origin of the aberrant chromosomes to be a partial single copy gain of 42.5 Mb from chromosome region 7:116266547 → qter and concurrent partial single copy loss of 8.1 Mb from chromosome region 6:162756975 → qter. Pathological examination of the abortus showed gastrointestinal malformations, hemivertebrae with scoliosis, clinodactyly and club feet. Conclusions.Prenatal and perinatal findings of concurrent trisomy 7q and monosomy 6q were unique. This study demonstrated array CGH can interrogate the entire genome at a resolution and rapidity unattainable by conventional cytogenetic techniques and may have wide application in prenatal diagnosis. © 2009 Informa Healthcare USA, Inc.en_US
dc.languageengen_US
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/14767058.aspen_US
dc.relation.ispartofJournal of Maternal-Fetal and Neonatal Medicineen_US
dc.subject.meshAbnormalities, Multiple - Pathologyen_US
dc.subject.meshAborted Fetus - Pathologyen_US
dc.subject.meshAdulten_US
dc.subject.meshChorionic Villi Samplingen_US
dc.subject.meshChromosome Deletionen_US
dc.subject.meshChromosomes, Human, Pair 6en_US
dc.subject.meshChromosomes, Human, Pair 7en_US
dc.subject.meshComparative Genomic Hybridization - Methodsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshKaryotypingen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosisen_US
dc.subject.meshTrisomy - Geneticsen_US
dc.titlePrenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 → qter) and partial monosomy 6q(6q26 → qter) by high-resolution array CGHen_US
dc.typeArticleen_US
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_US
dc.identifier.authorityTang, MHY=rp01701en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.3109/14767050902994812en_US
dc.identifier.pmid19900039-
dc.identifier.scopuseid_2-s2.0-70350306891en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-70350306891&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume22en_US
dc.identifier.issue11en_US
dc.identifier.spage1014en_US
dc.identifier.epage1020en_US
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridChoy, KW=55406473000en_US
dc.identifier.scopusauthoridChan, LW=8248758100en_US
dc.identifier.scopusauthoridTang, MHY=8943401300en_US
dc.identifier.scopusauthoridNg, LKL=25630698100en_US
dc.identifier.scopusauthoridLeung, TY=7202110959en_US
dc.identifier.scopusauthoridLau, TK=34768523800en_US

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