X-linked mental retardation with a fragile site in Xq and an inversion of chromosome no. 9.
The second black male with X-linked mental retardation and a fragile site at Xq27 was ascertained by screening for macroorchidism. GTG banding revealed the presence of an inv(9)(p13q21). This inversion is thought to be a chance occurrence and is probably of no clinical significance. More cases having a marker Xq and a chromosome abnormality are expected; some of these abnormalities will be clinically significant.
D002869:Chromosome Aberrations; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009929:Organ Size; D012729:Sex Chromosome Aberrations / Q000235:genetics; D012730:Sex Chromosomes; D013737:Testis / Q000473:pathology; D014960:X Chromosome