Is there a fragile(X) negative Martin-Bell syndrome?
During the course of the preventative screening program for the fra(X) syndrome, we identified 32 men with the phenotype but who were fra(X) negative. These were reviewed and none fitted the full criteria, so we were unable to confirm the existence of the fra(X) negative Martin-Bell syndrome. The literature and 4 families previously thought to have the fra(X) negative Martin-Bell syndrome were also reviewed. We were unable to make a concrete diagnosis of the fra(X) negative Martin-Bell syndrome.
D000328:Adult; D000368:Aged; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome