Cytological evidence for the location of male-determining and H-Y genes on the short arm of Y chromosome.
Chromosome analysis was performed in a case of mixed gonadal dysgenesis (MGD) with histological demonstration of both testicular structures and Müllerian derivatives. Mosaicism 45,X0/46, X plus a centric fragment was observed. C-, Q- and R-banding techniques show that the fragment has a terminal centromere and that it is derived from the short arm of the Y chromosome from the father. H-Y antigen was also shown to be present in cultured cells. These data demonstrate that both male-determining and H-Y genes are located on the short arm of the Y.
D000782:Aneuploidy; D002648:Child; D002871:Chromosome Banding; D002874:Chromosome Mapping; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012730:Sex Chromosomes; D012732:Sex Determination Analysis; D014998:Y Chromosome
D006182:H-Y Antigen