Mosaicism and lack of fluorescence of Y chromosome.
A patient with a female phenotype with XO/XY and possibly XYY mosaicism is presented. In all cells studied, there was no fluorescence of the Y chromosome. It appears that a tendency exists for an association of a defective Y chromosome with chromosomal mosaicism.
D000328:Adult; D000568:Amenorrhea / Q000209:etiology; D003582:Cytogenetics; D005260:Female; D005453:Fluorescence; D006801:Humans; D007246:Infertility / Q000209:etiology; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010053:Ovary / Q000002:abnormalities; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes