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Article: Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax

TitleVariable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax
Authors
Issue Date1999
PublisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252
Citation
Prenatal Diagnosis, 1999, v. 19 n. 8, p. 764-766 How to Cite?
AbstractWe report the first case of mosaic trisomy 21 with non-immune hydrops fetalis and bilateral chylothoraces. Prenatal fetal blood karyotype analysis of 15 fetal cells revealed a 46,XX karyotype. Aggressive prenatal management, including fetal thoracocentesis and pleuro-amniotic shunt, was performed. A clinical phenotype of Down syndrome was apparent after the gross oedema had subsided. Subsequent chromosome study of neonatal blood lymphocytes showed mosaic trisomy 21 with 23 per cent trisomic cells. Review of the initial fetal blood sample identified trisomy in 5 per cent of 134 cells. Follow-up study at five months showed no trisomy 21 in 100 cells. This case illustrates the variable levels of mosaicism manifest in the peripheral blood of an infant with obvious Down syndrome phenotype, and the limitation of cytogenetic analysis of peripheral lymphocytes alone in prenatal and postnatal detection of low levels of mosaicism.
Persistent Identifierhttp://hdl.handle.net/10722/180640
ISSN
2015 Impact Factor: 3.043
2015 SCImago Journal Rankings: 1.450
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorPuddy, Ven_US
dc.contributor.authorLam, BCCen_US
dc.contributor.authorTang, Men_US
dc.contributor.authorWong, KYen_US
dc.contributor.authorLam, YHen_US
dc.contributor.authorWong, Ken_US
dc.contributor.authorYeung, CYen_US
dc.date.accessioned2013-01-28T01:40:50Z-
dc.date.available2013-01-28T01:40:50Z-
dc.date.issued1999en_US
dc.identifier.citationPrenatal Diagnosis, 1999, v. 19 n. 8, p. 764-766en_US
dc.identifier.issn0197-3851en_US
dc.identifier.urihttp://hdl.handle.net/10722/180640-
dc.description.abstractWe report the first case of mosaic trisomy 21 with non-immune hydrops fetalis and bilateral chylothoraces. Prenatal fetal blood karyotype analysis of 15 fetal cells revealed a 46,XX karyotype. Aggressive prenatal management, including fetal thoracocentesis and pleuro-amniotic shunt, was performed. A clinical phenotype of Down syndrome was apparent after the gross oedema had subsided. Subsequent chromosome study of neonatal blood lymphocytes showed mosaic trisomy 21 with 23 per cent trisomic cells. Review of the initial fetal blood sample identified trisomy in 5 per cent of 134 cells. Follow-up study at five months showed no trisomy 21 in 100 cells. This case illustrates the variable levels of mosaicism manifest in the peripheral blood of an infant with obvious Down syndrome phenotype, and the limitation of cytogenetic analysis of peripheral lymphocytes alone in prenatal and postnatal detection of low levels of mosaicism.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252en_US
dc.relation.ispartofPrenatal Diagnosisen_US
dc.subject.meshAdulten_US
dc.subject.meshChylothorax - Congenital - Diagnosisen_US
dc.subject.meshDown Syndrome - Diagnosisen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshHydrops Fetalisen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMosaicismen_US
dc.subject.meshPolyhydramniosen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPregnancy Outcomeen_US
dc.subject.meshPrenatal Diagnosisen_US
dc.titleVariable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothoraxen_US
dc.typeArticleen_US
dc.identifier.emailTang, M: mhytang@hkucc.hku.hken_US
dc.identifier.authorityTang, M=rp01701en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/(SICI)1097-0223(199908)19:8<764::AID-PD618>3.0.CO;2-1en_US
dc.identifier.pmid10451525en_US
dc.identifier.scopuseid_2-s2.0-0032817942en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0032817942&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume19en_US
dc.identifier.issue8en_US
dc.identifier.spage764en_US
dc.identifier.epage766en_US
dc.identifier.isiWOS:000082118100015-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridPuddy, V=24470161000en_US
dc.identifier.scopusauthoridLam, BCC=8553938300en_US
dc.identifier.scopusauthoridTang, M=8943401300en_US
dc.identifier.scopusauthoridWong, KY=35356700400en_US
dc.identifier.scopusauthoridLam, YH=7202563903en_US
dc.identifier.scopusauthoridWong, K=35359705200en_US
dc.identifier.scopusauthoridYeung, CY=7201354144en_US

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