46,XY pure gonadal dysgenesis with non-fluorescent Y chromosome.
A 46,XY karyotype with a non-fluorescent Y chromosome was found in an infantile girl aged 16 with primary amenorrhea. Identification of the Y chromosome was made by different staining techniques and a photometric scanning method. The histology of the streak gonad also indicated the Y character of the chromosome. The authors' interpretation is a 46,XY pure gonadal dysgenesis with a non-fluorescent Y chromosome.
D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D010783:Photometry; D012730:Sex Chromosomes; D013194:Staining and Labeling; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome