X-to-X translocation associated with gonadal dysgenesis and discrete Turner syndrome stigmata; a case report.
In this paper we report an unusual type of X-to-X translocation with a translocation of the acentric part of the short arm of the X-chromosome onto the long arm of the X-chromosome at band Xq21.1 (karyotype: 46,X,t(X;X)(q21.1;p11.3). In addition to gonadal dysgenesis this 32-year-old female presented short stature and discrete Turner stigmata.
Kleczkowska
A
A
Centre for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Van den Berghe
H
H
D000328:Adult; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome / Q000648:ultrastructure*