Identification of the Y Chromosome by the Fluorescence Technique in an Xy/X0 Gonadal Dysgenesis

Summary A phenotypic female aged 16 years had sexual hypoplasia, streak gonads and sex chromosome mosaicism. She was XY in peripheral blood cultures and XY/X0 in Fallopian tube tissue and in skin cultures. A definite identification of the XY line was made by the fluorescence technique which showed a fluorescent section corresponding to the distal segment of the long arm of one of the five achrocentrics.