Molecular study of 45,X conceptuses: Correlation with clinical findings |
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Authors: | Isabel Lorda-Sanchez Franz Binkert Marco Maechler Albert Schinzel |
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Affiliation: | Institute of Medical Genetics, University of Zürich, Switzerland |
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Abstract: | The parental origin of the single X in 45 cases (40 liveborns and 5 fetuses) with a 45, X karyo-type 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. |
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Keywords: | 45,X gonadal dysgenesis origin of nondisjunction parental origin of sex chromosome loss Turner syndrome |
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