Linked Life Data

10548612

Source:http://linkedlifedata.com/resource/pubmed/id/10548612

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1999-12-30
pubmed:abstractText
The meiotic or mitotic origin of most cases of Turner syndrome remains unknown, due to the difficulty in detecting hidden mosaicisms and to the lack of meiotic segregation studies. We have had the opportunity to study one pair of monozygotic twins concordant for Turner syndrome of paternal origin. The paternal origin of the single X chromosome was determined by polymerase chain reaction (PCR) amplification. No mosaicism was detected for the X or Y chromosome. In this case, a meiotic error during gametogenesis would be a likely origin of X monosomy. To determine if meiotic errors are more frequent in the father of these monozygotic twins concordant for Turner syndrome of paternal origin, molecular studies in spermatozoa were conducted to analyse sex chromosome numerical abnormalities. A total of 12520 sperm nuclei from the twins' father and 85338 sperm nuclei from eight normal donors were analysed using three-colour fluorescent in-situ hybridization. There were significant differences between the twins' father and control donors for XY disomy (0.22 versus 0.11%, P < 0.001) and total sex chromosome disomy (0.38 versus 0.21%, P < 0.001). These results could indicate an increased tendency to meiotic sex chromosome non-disjunction in the father of the Turner twins.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0268-1161
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2735-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Paternal sex chromosome aneuploidy as a possible origin of Turner syndrome in monozygotic twins: case report.
pubmed:affiliation
Dept de Biologia Cel.lular i Fisiologia, Unitat de Biologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Spain.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't