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Article: Limb reduction defects in fetuses with homozygous α-thalassaemia-1

TitleLimb reduction defects in fetuses with homozygous α-thalassaemia-1
Authors
Lam, YHTang, MHYSin, SYGhosh, ALee, CP
Keywordsα-thalassaemia
Limb reduction defect
Pathogenesis
Issue Date1997
PublisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252
Citation
Prenatal Diagnosis, 1997, v. 17 n. 12, p. 1143-1146 How to Cite?
DOI: http://dx.doi.org/10.1002/(SICI)1097-0223(199712)17:12<1143::AID-PD204>3.0.CO;2-N
AbstractLimb reduction defect is a rare event. Its exact pathogenesis is unknown. We retrospectively reviewed the outcome of 130 fetuses affected by homozygous α-thalassaemia-1 and found that 11 of them (8 per cent; 95 per cent confidence interval: 4-13 per cent) had terminal transverse limb reduction defects. Chromosome study was available in ten fetuses with limb defects and the results were normal. We postulate that the strong association between homozygous α-thalassaemia-1 and limb reduction is related to the hypoxic insult in early gestation. This may be the final common pathway in the pathogenesis of other forms of limb reduction defects.
Persistent Identifierhttp://hdl.handle.net/10722/180628
ISSN
0197-3851
2021 Impact Factor: 3.242
2020 SCImago Journal Rankings: 0.956
ISI Accession Number ID
WOS:000071505100006
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorLam, YHen_US
dc.contributor.authorTang, MHYen_US
dc.contributor.authorSin, SYen_US
dc.contributor.authorGhosh, Aen_US
dc.contributor.authorLee, CPen_US
dc.date.accessioned2013-01-28T01:40:45Z-
dc.date.available2013-01-28T01:40:45Z-
dc.date.issued1997en_US
dc.identifier.citationPrenatal Diagnosis, 1997, v. 17 n. 12, p. 1143-1146en_US
dc.identifier.issn0197-3851en_US
dc.identifier.urihttp://hdl.handle.net/10722/180628-
dc.description.abstractLimb reduction defect is a rare event. Its exact pathogenesis is unknown. We retrospectively reviewed the outcome of 130 fetuses affected by homozygous α-thalassaemia-1 and found that 11 of them (8 per cent; 95 per cent confidence interval: 4-13 per cent) had terminal transverse limb reduction defects. Chromosome study was available in ten fetuses with limb defects and the results were normal. We postulate that the strong association between homozygous α-thalassaemia-1 and limb reduction is related to the hypoxic insult in early gestation. This may be the final common pathway in the pathogenesis of other forms of limb reduction defects.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.subjectα-thalassaemia-
dc.subjectLimb reduction defect-
dc.subjectPathogenesis-
dc.subject.meshFemaleen_US
dc.subject.meshFetal Diseases - Embryologyen_US
dc.subject.meshGestational Ageen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshLimb Deformities, Congenital - Embryology - Etiology - Pathologyen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPregnancy Outcomeen_US
dc.subject.meshPrenatal Diagnosis - Methods - Statistics & Numerical Dataen_US
dc.subject.meshRetrospective Studiesen_US
dc.subject.meshAlpha-Thalassemia - Complications - Embryologyen_US
dc.titleLimb reduction defects in fetuses with homozygous α-thalassaemia-1en_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.doi10.1002/(SICI)1097-0223(199712)17:12<1143::AID-PD204>3.0.CO;2-Nen_US
dc.identifier.pmid9467811-
dc.identifier.scopuseid_2-s2.0-0031467785en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031467785&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume17en_US
dc.identifier.issue12en_US
dc.identifier.spage1143en_US
dc.identifier.epage1146en_US
dc.identifier.isiWOS:000071505100006-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridLam, YH=7202563903en_US
dc.identifier.scopusauthoridTang, MHY=8943401300en_US
dc.identifier.scopusauthoridSin, SY=7006553270en_US
dc.identifier.scopusauthoridGhosh, A=7403963873en_US
dc.identifier.scopusauthoridLee, CP=7410149538en_US
dc.identifier.issnl0197-3851-

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