Familial X-linked mental retardation syndrome associated with minor congenital anomalies, macro-orchidism, and fragile X-chromosome.
Three young males of Azorian origin who exhibited significant mental retardation, minor congenital anomalies, behavior disorders, and macro-orchidism were described. The chromosomal analysis revealed a fragile X chromosome in all three patients.
D000293:Adolescent; D000328:Adult; D002874:Chromosome Mapping; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013737:Testis / Q000002:abnormalities*