Molecular study of 45,X conceptuses: correlation with clinical findings

I Lorda-Sanchez; F Binkert; M Maechler; A Schinzel

doi:10.1002/ajmg.1320420414

Molecular study of 45,X conceptuses: correlation with clinical findings

Am J Med Genet. 1992 Feb 15;42(4):487-90. doi: 10.1002/ajmg.1320420414.

Authors

I Lorda-Sanchez¹, F Binkert, M Maechler, A Schinzel

Affiliation

¹ Institute of Medical Genetics, University of Zürich, Switzerland.

PMID: 1351700
DOI: 10.1002/ajmg.1320420414

Abstract

The parental origin of the single X in 45 cases (40 liveborns and 5 fetuses) with a 45,X karyotype was studied using polymorphic DNA probes. The single X was paternal in origin (Xp) in 10 cases (22.2%) and maternal (Xm) in 35 cases (77.8%). Y chromosome material was detected in 1 out of the 35 cases with a 45,Xm constitution. Analysis of parental ages and clinical data of the patients with respect to the origin of the single X revealed no significant differences between the origins.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Fetus
Humans
Infant, Newborn
Monosomy
Mosaicism*
Nondisjunction, Genetic*
Polymorphism, Restriction Fragment Length
Turner Syndrome / genetics*
X Chromosome*
Y Chromosome