A male with a monocentric Yq isochromosome and presence of a Yp-specific DNA sequence.
We describe clinical features and laboratory findings in a physically and mentally retarded male with underdeveloped testes, a seemingly monocentric isochromosome of Yq but the presence of a Yp-specific DNA sequence at a single dose of unknown genomic localisation, and the presence of H-Y antigen at normal male titer. Our data contribute to the fine mapping of the human Y chromosome by correlating phenotypic features with results from karyotypic, immunologic, and molecular hybridisation analyses.
D000293:Adolescent; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics*; D005260:Female; D006182:H-Y Antigen / Q000235:genetics; D006801:Humans; D008297:Male; D051379:Mice; D009693:Nucleic Acid Hybridization; D013737:Testis / Q000002:abnormalities; D014178:Translocation, Genetic; D014998:Y Chromosome
D006182:H-Y Antigen; D004247:DNA