Linked Life Data

6683706

Source:http://linkedlifedata.com/resource/pubmed/id/6683706

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1983-9-9
pubmed:abstractText
The proportions of chromosomal genotypes associated with the Turner syndrome genotype (excluding those with a Y chromosome) in embryonic and fetal deaths, in fetuses diagnosed prenatally, and in living individuals were reviewed. The ratio of apparent non-mosaic 45,X to 45,X/46,XX mosaics was notably higher in a New York City series of embryonic and fetal deaths, 13.5 to 1, than in living individuals reported to the New York State Chromosome Registry, 3.6 to 1. The ratios of 45,X cases to those with 46,Xi(Xq) was 5.7 to 1 in living individuals, but was 112 to 0 in embryonic and fetal deaths, an even greater disparity, indicating the marked fetoprotective effect of more than one dose of some locus or loci on the long arm of the X chromosome. The results of review of data pertinent to the livebirth prevalence of the (apparent non-mosaic) 45,X genotype suggest a rate of about 5.7 per 100,000 livebirths (11.8 per 100,000 females) with 95% confidence limits of 2.6 per 100,000 to 10.8 per 100,000. The rate in fetuses diagnosed prenatally is 8/27,202, about 30 per 100,000. As a large proportion of these, perhaps 75%, would undergo spontaneous fetal death if not terminated electively, these figures are consistent with the direct estimate of livebirth rates. The rate of all those with X chromosome abnormalities (with a Y chromosome) associated with signs or symptoms that eventually lead to referral for cytogenetic study was estimated at a minimum of 10.7 per 100,000 livebirths, (22.2 per 100,000 females).
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
64
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
24-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.