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Two unbalanced translocations involving a common 6p25 region in two XY female patients
Author(s) -
Batanian JR,
Grange DK,
Fleming R,
Gadre B,
Wetzel J
Publication year - 2001
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2001.590109.x
Subject(s) - chromosomal translocation , karyotype , fluorescence in situ hybridization , phenotype , gene duplication , biology , genetics , sex reversal , cytogenetics , chromosome , gene
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.