Critical region hypothesis: primary amenorrhea in an 18-year-old woman with a complex translocation (X;2;8).
An 18-year-old woman presented with primary amenorrhea. She was prepubertal and had a few minor anomalies. Nonreciprocal chromosome translocations involving the X, a 2, and an 8 included a break in the region of the Xq13-q26, considered critical for normal ovarian development. Breakpoints within this region are thought to interfere with normal gonadal development. Our patient had no evidence of normal ovarian tissue or evident manifestations of the Ullrich-Turner syndrome.
D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics; D006801:Humans; D008957:Models, Genetic; D014178:Translocation, Genetic; D014960:X Chromosome