title: A new case of Y to X translocation in a female.
abstract: An unbalanced Y to X translocation due to a de novo mutation is described in a female with some clinical features of the Turner syndrome. Her karyotype is defined as 46,X,t(X;Y)(Xp11.2;Yq11). Hae III restriction analysis revealed an amount of male-specific DNA sequences in the normal male range. DNA replication analysis showed that in all cells studied the translocation X chromosome was late replicating and that the X segment of the translocation chromosome was later replicating while replication of the Y segment varied. A serologic test indicated a reduced titer of H-Y antigen, and biochemical studies for the enzyme steroid sulfatase revealed activity in the male range.
mesh_terms: D000328:Adult; D001789:Blood Group Antigens / Q000235:genetics; D002871:Chromosome Banding; D004261:DNA Replication; D005260:Female; D006182:H-Y Antigen / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D001789:Blood Group Antigens; D006182:H-Y Antigen; D013429:Sulfatases; D043266:Steryl-Sulfatase