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- Publisher Website: 10.1002/(SICI)1097-0223(199908)19:8<764::AID-PD618>3.0.CO;2-1
- Scopus: eid_2-s2.0-0032817942
- PMID: 10451525
- WOS: WOS:000082118100015
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Article: Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax
Title | Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax |
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Authors | |
Keywords | Chylothorax Hydrops Mosaic trisomy 21 |
Issue Date | 1999 |
Publisher | John 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? |
Abstract | We 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 Identifier | http://hdl.handle.net/10722/180640 |
ISSN | 2023 Impact Factor: 2.7 2023 SCImago Journal Rankings: 0.986 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
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dc.contributor.author | Puddy, V | en_US |
dc.contributor.author | Lam, BCC | en_US |
dc.contributor.author | Tang, M | en_US |
dc.contributor.author | Wong, KY | en_US |
dc.contributor.author | Lam, YH | en_US |
dc.contributor.author | Wong, K | en_US |
dc.contributor.author | Yeung, CY | en_US |
dc.date.accessioned | 2013-01-28T01:40:50Z | - |
dc.date.available | 2013-01-28T01:40:50Z | - |
dc.date.issued | 1999 | en_US |
dc.identifier.citation | Prenatal Diagnosis, 1999, v. 19 n. 8, p. 764-766 | en_US |
dc.identifier.issn | 0197-3851 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/180640 | - |
dc.description.abstract | We 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.language | eng | en_US |
dc.publisher | John Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252 | en_US |
dc.relation.ispartof | Prenatal Diagnosis | en_US |
dc.subject | Chylothorax | - |
dc.subject | Hydrops | - |
dc.subject | Mosaic trisomy 21 | - |
dc.subject.mesh | Adult | en_US |
dc.subject.mesh | Chylothorax - Congenital - Diagnosis | en_US |
dc.subject.mesh | Down Syndrome - Diagnosis | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Hydrops Fetalis | en_US |
dc.subject.mesh | Infant, Newborn | en_US |
dc.subject.mesh | Mosaicism | en_US |
dc.subject.mesh | Polyhydramnios | en_US |
dc.subject.mesh | Pregnancy | en_US |
dc.subject.mesh | Pregnancy Outcome | en_US |
dc.subject.mesh | Prenatal Diagnosis | en_US |
dc.title | Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax | en_US |
dc.type | Article | en_US |
dc.identifier.email | Tang, M: mhytang@hkucc.hku.hk | en_US |
dc.identifier.authority | Tang, M=rp01701 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1002/(SICI)1097-0223(199908)19:8<764::AID-PD618>3.0.CO;2-1 | en_US |
dc.identifier.pmid | 10451525 | en_US |
dc.identifier.scopus | eid_2-s2.0-0032817942 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0032817942&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 19 | en_US |
dc.identifier.issue | 8 | en_US |
dc.identifier.spage | 764 | en_US |
dc.identifier.epage | 766 | en_US |
dc.identifier.isi | WOS:000082118100015 | - |
dc.publisher.place | United Kingdom | en_US |
dc.identifier.scopusauthorid | Puddy, V=24470161000 | en_US |
dc.identifier.scopusauthorid | Lam, BCC=8553938300 | en_US |
dc.identifier.scopusauthorid | Tang, M=8943401300 | en_US |
dc.identifier.scopusauthorid | Wong, KY=35356700400 | en_US |
dc.identifier.scopusauthorid | Lam, YH=7202563903 | en_US |
dc.identifier.scopusauthorid | Wong, K=35359705200 | en_US |
dc.identifier.scopusauthorid | Yeung, CY=7201354144 | en_US |
dc.identifier.issnl | 0197-3851 | - |