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. 1986 Oct;83(20):7841–7844. doi: 10.1073/pnas.83.20.7841

Small deletions of the short arm of the Y chromosome in 46,XY females.

C M Disteche, M Casanova, H Saal, C Friedman, V Sybert, J Graham, H Thuline, D C Page, M Fellous
PMCID: PMC386818  PMID: 3464001

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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