Cytogenetic and molecular analysis of sex-chromosome monosomy.

Abstract

X chromosome- and Y chromosome-specific DNA probes were used to study different aspects of the genesis of sex-chromosome monosomy. Using X-linked RFLPs, we studied the parental origin of the single X chromosome in 35 spontaneously aborted and five live-born 45,X conceptions. We determined the origin in 35 cases; 28 had a maternal X (Xm) and seven had a paternal X (Xp). There was a correlation between parental origin and parental age, with the Xp category having a significantly reduced mean maternal age by comparison with the Xm group. Studies aimed at detecting mosaicism demonstrated the presence of a Y chromosome or a second X chromosome in three of 33 spontaneous abortions, a level of mosaicism much lower than that reported for live-born Turner syndrome individuals.

• Authors: T Hassold, F Benham, M Leppert
• Journal: American journal of human genetics (Am J Hum Genet) Vol. 42 Issue 4 Pg. 534-41 (Apr 1988) ISSN: 0002-9297 [Print] United States
• PMID: 2894760 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• DNA

Topics

• Chromosome Banding
• Chromosome Deletion
• DNA (genetics)
• Female
• Humans
• Male
• Monosomy
• Polymorphism, Restriction Fragment Length
• Sex Chromosome Aberrations
• X Chromosome
• Y Chromosome