Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2006-3-27
pubmed:abstractText
We report a case of a 26-year-old multigravida pregnant woman with a history of 3 stillbirths with hydrops fetalis who presented with 17 weeks menstrual age. Sonographic examination revealed twin gestation. Twin 1 showed subcutaneous edema, pleural effusion, and mesomelic limb shortening, suggestive of lethal skeletal dysplasia (Roberts syndrome). Twin 2 corresponded to 17 weeks menstrual age with no major malformations. Karyotyping of the fetuses showed normal karyotype in twin 1 and trisomy 18 in twin 2. Fetal autopsy confirmed the sonographic findings. The occurrence of trisomy 18 in the fetus may be due to chance, but it raises the possibility that the heterozygotes of Roberts syndrome may be at higher risk of nondisjunction and aneuploidy in the fetus. Furthermore, this case illustrates that karyotyping of both fetuses is warranted when 1 of the twins is found to have major malformations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0091-2751
pubmed:author
pubmed:copyrightInfo
Copyright 2006 Wiley Periodicals, Inc.
pubmed:issnType
Print
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
146-9
pubmed:meshHeading
pubmed:articleTitle
Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other.
pubmed:affiliation
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
pubmed:publicationType
Journal Article, Case Reports