Cytogenetic studies in ataxia telangiectasia & their use in prenatal diagnosis.

ABSTRACT

Cytogenetic studies were carried out in obligate ataxia telangiectasia (AT) heterozygotes, AT homozygotes and control subjects. Rate of chromosomal aberrations and the frequency of micronuclei were examined before and after radiation (100 rads). Significant differences in the rate of chromosomal aberrations and micronuclei were observed among heterozygotes, homozygotes and controls. The same methods were then applied for prenatal diagnosis of AT using amniotic cell culture in two families.