Analysis of the origin of Turner's syndrome using polymorphic DNA probes.
Thirty-four families with a child or fetus with Turner's syndrome were studied using a series of polymorphic DNA probes. Analysis of the origin of the normal X chromosome was possible in all cases. In 16 families with 45,X (four fetuses and 12 livebirths), the observed X was maternal in each case, indicating a preferential loss of the paternal sex chromosome at, or before, conception. In the remaining 18 families with a variety of karyotypes, but especially in those where the child had an isochromosome of Xq or a ring X, there was again a strong tendency for the normal X to be maternal. Analysis of parental ages was performed with known origin of each abnormality, but no evidence for an increased or decreased parental age effect was detected.
Loughlin
S A
SA
University Department of Medical Genetics, Duncan Guthrie Institute, Yorkhill, Glasgow.
Redha
A
A
McIver
J
J
Boyd
E
E
Carothers
A
A
Connor
J M
JM
D000328:Adult; D000367:Age Factors; D015342:DNA Probes; D005260:Female; D006801:Humans; D010375:Pedigree; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome / Q000648:ultrastructure
D015342:DNA Probes