[X chromosome-linked mental retardation with fragile X chromosome and macro-orchidism].
Description of the first Swiss family with the new syndrome of X-linked mental retardation. The three brothers described are the first of all males traced back for four generations to be affected. In two of the brothers macroorchidism and the fragile X-chromosome were demonstrated, while the third brother died before diagnosis. As expected, the fragile X was not demonstrable in the 75-year-old mother of the three brothers.
D000293:Adolescent; D000328:Adult; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D006984:Hypertrophy; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013737:Testis / Q000002:abnormalities*; D014960:X Chromosome
X-chromosomaler Schwachsinn mit brüchigem X-Chromosom und Makroorchidismus.