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Article: Prenatal detection of a de novo Yqh-acrocentric translocation

TitlePrenatal detection of a de novo Yqh-acrocentric translocation
Authors
Issue Date2006
PublisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/clinbiochem
Citation
Clinical Biochemistry, 2006, v. 39 n. 3, p. 219-223 How to Cite?
AbstractObjectives: To identify the extra chromosomal material on 46,XX,21p+ for prenatal diagnosis. Design and methods: Conventional cytogenetic studies using GTG (G bands by trypsin using Giemsa) and CBG (C bands by barium hydroxide using Giemsa) techniques were performed on chromosomes at metaphase obtained from cultured amniocytes and parental blood lymphocytes. Molecular cytogenetic techniques, QF-PCR (quantitative fluorescent polymerase chain reaction), FISH (fluorescent in-situ hybridization), and DA-DAPI (Distamycin A and 4,6-diamino-2-phenylindole) staining, were then used to clarify the extra material present on fetal chromosome 21 p. Results: The extra material on fetal chromosome 21 p has originated from Yqh, most likely at PAR2 (the secondary pseudoautosomal region). The karyotype should be 46,XX,der(21)t(Y;21)(q12;p13)de novo.ish der(21)t(Y;21)(q12;p13) (EST Cdy16c07+). Conclusion: This case demonstrates the usefulness of molecular techniques in the investigation of rare chromosomal rearrangements. © 2006 The Canadian Society of Clinical Chemists. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/180678
ISSN
2015 Impact Factor: 2.382
2015 SCImago Journal Rankings: 0.893
References

 

DC FieldValueLanguage
dc.contributor.authorNg, LKLen_US
dc.contributor.authorKwok, YKen_US
dc.contributor.authorTang, LYFen_US
dc.contributor.authorNg, PPYen_US
dc.contributor.authorGhosh, Aen_US
dc.contributor.authorLau, ETen_US
dc.contributor.authorTang, MHYen_US
dc.date.accessioned2013-01-28T01:41:03Z-
dc.date.available2013-01-28T01:41:03Z-
dc.date.issued2006en_US
dc.identifier.citationClinical Biochemistry, 2006, v. 39 n. 3, p. 219-223en_US
dc.identifier.issn0009-9120en_US
dc.identifier.urihttp://hdl.handle.net/10722/180678-
dc.description.abstractObjectives: To identify the extra chromosomal material on 46,XX,21p+ for prenatal diagnosis. Design and methods: Conventional cytogenetic studies using GTG (G bands by trypsin using Giemsa) and CBG (C bands by barium hydroxide using Giemsa) techniques were performed on chromosomes at metaphase obtained from cultured amniocytes and parental blood lymphocytes. Molecular cytogenetic techniques, QF-PCR (quantitative fluorescent polymerase chain reaction), FISH (fluorescent in-situ hybridization), and DA-DAPI (Distamycin A and 4,6-diamino-2-phenylindole) staining, were then used to clarify the extra material present on fetal chromosome 21 p. Results: The extra material on fetal chromosome 21 p has originated from Yqh, most likely at PAR2 (the secondary pseudoautosomal region). The karyotype should be 46,XX,der(21)t(Y;21)(q12;p13)de novo.ish der(21)t(Y;21)(q12;p13) (EST Cdy16c07+). Conclusion: This case demonstrates the usefulness of molecular techniques in the investigation of rare chromosomal rearrangements. © 2006 The Canadian Society of Clinical Chemists. All rights reserved.en_US
dc.languageengen_US
dc.publisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/clinbiochemen_US
dc.relation.ispartofClinical Biochemistryen_US
dc.subject.meshAdulten_US
dc.subject.meshAmniotic Fluid - Cytologyen_US
dc.subject.meshCells, Cultureden_US
dc.subject.meshChromosome Bandingen_US
dc.subject.meshChromosomes, Human, Pair 21 - Geneticsen_US
dc.subject.meshChromosomes, Human, Y - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshFetus - Metabolismen_US
dc.subject.meshHumansen_US
dc.subject.meshIn Situ Hybridization, Fluorescenceen_US
dc.subject.meshKaryotypingen_US
dc.subject.meshMetaphase - Geneticsen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosisen_US
dc.subject.meshTranslocation, Genetic - Geneticsen_US
dc.titlePrenatal detection of a de novo Yqh-acrocentric translocationen_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.doi10.1080/09523980600641429en_US
dc.identifier.pmid16515778-
dc.identifier.scopuseid_2-s2.0-33644959114en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33644959114&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume39en_US
dc.identifier.issue3en_US
dc.identifier.spage219en_US
dc.identifier.epage223en_US
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridNg, LKL=25630698100en_US
dc.identifier.scopusauthoridKwok, YK=8247106700en_US
dc.identifier.scopusauthoridTang, LYF=12781255600en_US
dc.identifier.scopusauthoridNg, PPY=12782567600en_US
dc.identifier.scopusauthoridGhosh, A=7403963873en_US
dc.identifier.scopusauthoridLau, ET=36006491400en_US
dc.identifier.scopusauthoridTang, MHY=8943401300en_US

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