Small deletions of the short arm of the Y chromosome in 46,XY females.
Identifieur interne : 009851 ( Ncbi/Checkpoint ); précédent : 009850; suivant : 009852Small deletions of the short arm of the Y chromosome in 46,XY females.
Auteurs : C M Disteche ; M. Casanova ; H. Saal ; C. Friedman ; V. Sybert ; J. Graham ; H. Thuline ; D C Page ; M. FellousSource :
- Proceedings of the National Academy of Sciences of the United States of America [ 0027-8424 ] ; 1986.
Abstract
Structural anomalies of the sex chromosomes provide a means to study the location of genes responsible for sex determination. Recently, a type of sex reversal in humans, the 46,XX male, was shown to result in some cases from translocation of Y chromosome material to the X chromosome. In the present report, another type of sex reversal, the 46,XY female, is shown to result, in two cases, from small deletions of the short arm of the Y chromosome. Prometaphase chromosome analysis showed a 46,X,Yp- karyotype. Several Y chromosome-specific DNA probes were found to be deleted in the two female patients. DNA analysis showed that the two deletions were different but included a common overlapping region likely to be essential for male determination.
Url:
PubMed: 3464001
PubMed Central: 386818
Affiliations:
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PMC:386818Le document en format XML
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<front><div type="abstract" xml:lang="en"><p>Structural anomalies of the sex chromosomes provide a means to study the location of genes responsible for sex determination. Recently, a type of sex reversal in humans, the 46,XX male, was shown to result in some cases from translocation of Y chromosome material to the X chromosome. In the present report, another type of sex reversal, the 46,XY female, is shown to result, in two cases, from small deletions of the short arm of the Y chromosome. Prometaphase chromosome analysis showed a 46,X,Yp- karyotype. Several Y chromosome-specific DNA probes were found to be deleted in the two female patients. DNA analysis showed that the two deletions were different but included a common overlapping region likely to be essential for male determination.</p>
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