Expression of the autosomal folate-sensitive fragile sites in ten kindreds with Martin-Bell syndrome.
The authors analyse the expression of all the folate-sensitive fra sites in a sample of 24 male patients with Martin-Bell syndrome (MBS) and their 12 mothers distributed in 10 kindreds. The cytogenetic results are compared with that of a control group, constituted by 8 unrelated normal subjects. Except for the fra Xq27, there was no autosomal folate-sensitive fra site significantly more expressed in patients with MBS than in the control group. On the basis of the present cytogenetic sample of about 6 500 R-banded mitoses, a list of all the in vitro folate-sensitive fra sites and their relative frequencies is given.
D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D005260:Female; D005492:Folic Acid / Q000494:pharmacology*; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*
D005492:Folic Acid