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Updated: Oct 9, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Two unbalanced translocations involving a common 6p25 region in two XY female patients
J R Batanian1, D K Grange, R Fleming
1Department of Pediatrics, Pediatrics Research Institute, University of Saint-Louis, MO, USA. batanijr@slu.edu
Abstract:
We report two 46,XY female patients with two different de novo unbalanced translocations, each involving the chromosomal region 6p25. The patient with a 46,XY,der(6)t(X;6)(p21.2;p25) karyotype had a sex reversal phenotype. The patient with a 46,XY,der(13)t(6;13)(p25;q33) karyotype had a male pseudohermaphrodite phenotype. Multi-paint fluorescent in situ hybridization was performed to determine the origin of the derivative material on 6p and 13q. The association of abnormalities of the 6p25 region with either an Xp duplication or a 13q deletion is reported here for the first time.
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