X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter.
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
D000328:Adult; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006579:Heterozygote; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D007621:Karyotyping; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014960:X Chromosome