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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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Hassold T,Benham F,Leppert M

subject

Has Abstract

pub_date

1988-04-01 00:00:00

pages

534-41

issue

4

eissn

0002-9297

issn

1537-6605

journal_volume

42

pub_type

杂志文章

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