X/XYq - mosaicism and mixed gonadal dysgenesis.
A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length. Evidence for translocation of the Y fluorescent segment to another chromosome was lacking in the present case.
D002675:Child, Preschool; D002877:Chromosomes, Human; D003878:Dermatoglyphics; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012729:Sex Chromosome Aberrations; D013739:Testosterone / Q000097:blood; D014998:Y Chromosome
D013739:Testosterone