Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.
A pedigree showing the fragile site at Xq27 in a severely retarded female and in other less retarded carriers is described. Two of the four moderately retarded males with the fra(X)(q27) show macro-orchidism, and a variety of other features usually used to support the effects of the fra(X)(q27) are also inconsistent. A second fragile site at (10)(q23) is also present and in the two oldest females its frequency is not decreased, whereas the fra(x)(q27) is not detectable in these females although probably present. It is concluded that pedigrees showing mentally retarded females and probable X linkage should be included in studies of the fra(X)(q27).
D000328:Adult; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012730:Sex Chromosomes / Q000648:ultrastructure*; D014960:X Chromosome / Q000648:ultrastructure*