Abstract
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.
Original language | English |
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Pages (from-to) | 25-28 |
Journal | American Journal of Medical Genetics |
Volume | 90 |
Issue number | 1 |
DOIs | |
Publication status | Published - 8 Jan 2000 |
Keywords
- Sex determination
- SRY gene
- Translocation
- True hermaphroditism
- X
- X- inactivation