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Article: Mosaic partial trisomy 17q2

TitleMosaic partial trisomy 17q2
Authors
King, PAGhosh, ATang, M
Issue Date1991
PublisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Citation
Journal Of Medical Genetics, 1991, v. 28 n. 9, p. 641-643 How to Cite?
DOI: http://dx.doi.org/10.1136/jmg.28.9.641
AbstractExamination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal mosaicism was restricted to fetal tissue and amniotic fluid cells. The placental chromosomal complement was normal, suggesting that the abnormality developed after differentiation of embryonic and trophoblastic cells. This emphasises the usefulness of cytogenetic evaluation of placental, fetal, and amniotic fluid cells in delineating the pathogenesis of congenital abnormalities.
Persistent Identifierhttp://hdl.handle.net/10722/45491
ISSN
0022-2593
2023 Impact Factor: 3.5
2023 SCImago Journal Rankings: 1.690
PubMed Central ID
PMC1015800
ISI Accession Number ID
WOS:A1991GE98800016

 

DC FieldValueLanguage
dc.contributor.authorKing, PAen_HK
dc.contributor.authorGhosh, Aen_HK
dc.contributor.authorTang, Men_HK
dc.date.accessioned2007-10-30T06:27:16Z-
dc.date.available2007-10-30T06:27:16Z-
dc.date.issued1991en_HK
dc.identifier.citationJournal Of Medical Genetics, 1991, v. 28 n. 9, p. 641-643en_HK
dc.identifier.issn0022-2593en_HK
dc.identifier.urihttp://hdl.handle.net/10722/45491-
dc.description.abstractExamination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal mosaicism was restricted to fetal tissue and amniotic fluid cells. The placental chromosomal complement was normal, suggesting that the abnormality developed after differentiation of embryonic and trophoblastic cells. This emphasises the usefulness of cytogenetic evaluation of placental, fetal, and amniotic fluid cells in delineating the pathogenesis of congenital abnormalities.en_HK
dc.format.extent654805 bytes-
dc.format.extent1725 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypetext/plain-
dc.languageengen_HK
dc.publisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/en_HK
dc.relation.ispartofJournal of Medical Geneticsen_HK
dc.rightsJournal of Medical Genetics. Copyright © B M J Publishing Group.en_HK
dc.subject.meshAbnormalities,-Multiple-geneticsen_HK
dc.subject.meshChromosome-Aberrations-geneticsen_HK
dc.subject.meshChromosomes,-Human,-Pair-17en_HK
dc.subject.meshFace-abnormalitiesen_HK
dc.subject.meshLimb-Deformities,-Congenitalen_HK
dc.titleMosaic partial trisomy 17q2en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-2593&volume=28&issue=9&spage=641&epage=643&date=1991&atitle=Mosaic+partial+trisomy+17q2en_HK
dc.identifier.emailTang, M: mhytang@hkucc.hku.hken_HK
dc.identifier.authorityTang, M=rp01701en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1136/jmg.28.9.641-
dc.identifier.pmid1956067en_HK
dc.identifier.pmcidPMC1015800-
dc.identifier.scopuseid_2-s2.0-0025847975en_HK
dc.identifier.volume28en_HK
dc.identifier.issue9en_HK
dc.identifier.spage641en_HK
dc.identifier.epage643en_HK
dc.identifier.isiWOS:A1991GE98800016-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridKing, PA=7402115990en_HK
dc.identifier.scopusauthoridGhosh, A=7403963873en_HK
dc.identifier.scopusauthoridTang, M=8943401300en_HK
dc.identifier.issnl0022-2593-

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