Balanced X;15 translocation 46,X,t(X;15)(q21;q23) associated with primary amenorrhea.
Cytogenetic studies on a woman with primary amenorrhea showed an X;15 translocation, karyotype 46,X,t(X;15)(q21;q23). Fifteen percent of the buccal cells showed a normal-sized sex chromatin body. The normal X chromosome was uniformly inactivated. Many balanced X;15 translocations have been reported; however, breakpoints in our patient differ from those reported previously. This case also supports earlier evidence that ovarian development fails when the breakpoint of the X chromosome is in the region X q13-q25 or q13-q27.
Ji
X W
XW
Department of Medical Genetics, 3rd Army Medical College, Chongqing, Sichuan, China.
Chen
X Y
XY
Tan
J
J
Liang
H
H
D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D002875:Chromosomes; D002882:Chromosomes, Human, Pair 13; D002884:Chromosomes, Human, Pair 15; D002891:Chromosomes, Human, Pair 21; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D014178:Translocation, Genetic