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SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite

✍ Scribed by Margarit, Ester; Coll, M. Dolors; Oliva, Rafael; G�mez, David; Soler, Anna; Ballesta, Francisca

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
15 KB
Volume
90
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(20000103)90:1<25::aid-ajmg5>3.0.co;2-5

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✦ Synopsis

Yp

-specific sequences, including the testicular determinant gene SRY, have been detected and located in a 46,XX true hermaphrodite individual, using PCR amplification and fluorescent in situ hybridization (FISH). Among different Y chromosome loci tested, it was only possible to detect Yp sequences. The Y-centromere and Yq sequences were absent. Unexpectedly, the Y fragment was translocated to the long arm of one of the X chromosomes, at the Xq28 level, and the derivative (X) chromosome of the patient lacked q-telomeric sequences. To our knowledge, this is the first Yp/Xq translocation reported. The coexistence of testicular and ovarian tissue in the patient may have arisen by differential inactivation of the Y-bearing X chromosome, in which Xq telomeric sequences are missing. The possible origin of the Yp/Xq translocation, during paternal meiosis or in somatic paternal cells, is discussed.

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