An SRY-negative 47,XXY mother and daughter (Y-chromosome transmission through the mother)

Bibliographic Collection: 
Publication Type: Journal Article
Authors: Röttger, S; Schiebel, K; Senger, G; Ebner, S; Schempp, W; Scherer, G
Year of Publication: 2000
Journal: Cytogenet Cell Genet.
Volume: 91
Start Page: 204
Issue: 1-4
Pagination: 204-7
Publication Language: eng

Females with XY gonadal dysgenesis are sterile, due to degeneration of the initially present ovaries into nonfunctional streak gonads. Some of these sex-reversal cases can be attributed to mutation or deletion of the SRY gene. We now describe an SRY-deleted 47,XXY female who has one son and two daughters, and one of her daughters has the same 47,XXY karyotype. PCR and FISH analysis revealed that the mother carries a structurally altered Y chromosome that most likely resulted from an aberrant X-Y interchange between the closely related genomic regions surrounding the gene pair PRKX and PRKY on Xp22.3 and Yp11.2, respectively. As a consequence, Yp material, including SRY, has been replaced by terminal Xp sequences up to the PRKX gene. The fertility of the XXY mother can be attributed to the presence of the additional X chromosome that is missing in XY gonadal dysgenesis females. To our knowledge, this is the first human XXY female described who is fertile.

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