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Case Reports
. 1991 Mar;28(3):156-8.
doi: 10.1136/jmg.28.3.156.

Analysis of the origin of Turner's syndrome using polymorphic DNA probes

S A Loughlin  1 , A Redha, J McIver, E Boyd, A Carothers, J M Connor
Affiliations
Case Reports

Analysis of the origin of Turner's syndrome using polymorphic DNA probes

S A Loughlin et al. J Med Genet. 1991 Mar.

Abstract

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.

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