Expression of the autosomal folate-sensitive fragile sites in ten kindreds with Martin-Bell syndrome

Ann Genet. 1986;29(1):59-61.

Abstract

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.

MeSH terms

  • Chromosome Fragile Sites
  • Chromosome Fragility*
  • Female
  • Folic Acid / pharmacology*
  • Fragile X Syndrome / genetics*
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Phenotype
  • Sex Chromosome Aberrations / genetics*

Substances

  • Folic Acid