Fragile X-linked mental retardation: the Martin-Bell syndrome.
Seven members of the original family of sex-linked mental retardation reported by Martin and Bell in 1943 have been re-examined and five of them proved to carry a fragile X chromosome. Some also display the typical facial appearance associated with this anomaly, and some have macro-orchidism. It is proposed that the condition should be designated "The Martin-Bell syndrome."
D000368:Aged; D002873:Chromosome Fragility; D005149:Facial Expression; 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