Molecular study of 45,X conceptuses: correlation with clinical findings.
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.
Institute of Medical Genetics, University of Zürich, Switzerland.
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I
Lorda-Sanchez
F
F
Binkert
M
M
Maechler
A
A
Schinzel
D005333:Fetus; D006801:Humans; D007231:Infant, Newborn; D009006:Monosomy; D009030:Mosaicism; D009630:Nondisjunction, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome