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Vol. 91, No. 1-4, 2000
Issue release date: 2000
Section title: Paper
Cytogenet Cell Genet 91:204–207 (2000)
(DOI:10.1159/000056845)

An SRY-negative 47,XXY mother and daughter

Röttger S.a · Schiebel K.b · Senger G.c · Ebner S.c · Schempp W.a · Scherer G.a
aInstitut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg; bInstitut für Humangenetik, Universität Heidelberg, Heidelberg; and cPraxis für Medizinische Genetik, Regensburg (Germany)

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Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 1/30/2001
Issue release date: 2000

Number of Print Pages: 4
Number of Figures: 2
Number of Tables: 0

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

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 As a consequence, Yp material, including SRY, has been replaced by terminal Xp sequences up to the PRKX gene.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.   

© 2001 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 1/30/2001
Issue release date: 2000

Number of Print Pages: 4
Number of Figures: 2
Number of Tables: 0

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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