Marker X syndrome in an oriental family with probable transmission by a normal male.
We report an oriental family with sex-linked mental retardation, macroorchidism, and a marker or fragile site on the X chromosome--mar(X)(q28). The three affected males resemble clinically most previously reported affected Caucasians. The marker was present in four female 40-70 years old, including one with normal intelligence. Transmission of the disorder appears to have taken place through a clinically normal male to his grandson.
D000293:Adolescent; D000328:Adult; D000368:Aged; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D013737:Testis / Q000002:abnormalities; D014960:X Chromosome