X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter

Human Genetics
K MadanC E Ford

Abstract

An unusual case is presented of a fertile woman heterozygous for a balanced X-autosome translocation t(X;12)(q22;p12) with a break-point (Xq22) in the critical region of the X chromosome. The karyotypes of her daughter, who is infertile, and one of her two sons are 47,XXX,t(X;12)(q22;p12) and 46,XY,t(X;12)(q22;p12) respectively. The literature on balanced X-autosome translocations in males and females involving both arms of the X chromosome is reviewed. All 23 of the 36 cases of females with balanced Xq-autosome translocation, that exhibited gonadal failure have a break-point between bands Xq13 and Xq26.U

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Citations

Jan 1, 1982·Human Genetics·R D Wegner
Oct 15, 1986·Experientia·A C Chandley
Jan 1, 1985·American Journal of Medical Genetics·V D MarkovicJ Wilkinson
Apr 1, 1985·American Journal of Medical Genetics·J M CantúH Rivera

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