title: Whole-arm t(X;17) (Xp17q;Xq17p) and gonadal dysgenesis. A further exception to the critical region hypothesis.
abstract: A 19-year-old female patient with gonadal dysgenesis and a de novo t(X;17) (Xp17q;Xq17p) is described. Since the critical segment Xq13----q26 was intact, this case is a further exception to the critical region hypothesis.
mesh_terms: D000328:Adult; D002902:Chromosomes, Human, 16-18; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D014178:Translocation, Genetic; D014960:X Chromosome