Linked Life Data

16131369

Source:http://linkedlifedata.com/resource/pubmed/id/16131369

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2005-8-31
pubmed:abstractText
We report here two iniencephaly fetuses with chromosome mosaicism. The first fetus (22 weeks) was male with mosaic trisomy 13, and the second fetus (24 weeks) was female with mosaic monosomy X. The first fetus had anencephaly, facial clefting, left-sided rocker bottom foot, equinovarous deformity, bilateral simian crease of hands and horseshoe kidney in addition to iniencephaly. The second fetus had hydrops fetalis with cystic hygroma in addition to iniencephaly. Because the fetuses were sent in formalin, conventional chromosomal analysis was not possible in spite of strong indication. Interphase fluorescence in situ hybridization (FISH) was carried out for targeted aneuploidy analysis. This is fourth published report of chromosomal abnormality in iniencephaly.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0914-3505
pubmed:author
pubmed:issnType
Print
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
102-5
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Iniencephaly and chromosome mosaicism: a report of two cases.
pubmed:affiliation
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. ashutoshhalder@yahoo.co.in
pubmed:publicationType
Journal Article, Case Reports