Dicentric Yp chromosome in a patient with the gonadal dysgenesis and gonadoblastoma.
A patient with a short stature, gonadal dysgenesis, and bilateral gonadoblastoma had 3 cell lines in the blood and in the skin: 46,X,dic (Y) (pter vector q 1 2 : : 1 2 vector pter) as a major cell line 46,X,del(Y) (q 1 2), and 45,X. The intensively flourescent distal part of the Yq was deleted in both the Y-dicentric and Yq--chromosome. Both parents had normal karyotypes.
D000328:Adult; D004407:Dysgerminoma / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics*