157 MICROCEPHALY WITH IMMUNODEFICIENCY AND CHROMOSOME INSTABILITY

Abstract

In 1981 Weemaes et al.(Acta Paediatr.Scand.70:557-564 1981) reported on two Dutch children with microcephaly, stunted growth immunodeficiency and chromosome instability. Recently Seemanova et al.(Amj. Med Genetics 20:639-648 1985)described 9 patients from 6 families with microcephaly, immunodeficiency and increased risk for lymphoreticular malignancy. Both humoral and cellular immunity were disturbed in the patients. Cytogenetic studies in our Dutch patient and three Csechoslovak patients, still alive, revealed multiple rearrangements of chromosomes 7 and 14. There was also an increased sensitivity of the chromosomes to X-rays and abnormal DNArepair synthesis after irradiation of the cells. The laboratory findings of these patients are identical with those in ataxia telangiectasia. The clinical symptons are different, however, because all patients have microcephaly but neither ataxia nor telangiectasia.