Ataxia telangiectasia with evolution of monosomy 14 and emergence of Hodgkin's disease.

A young woman, with ataxia telangiectasia (AT) had a chromosomally abnormal T-lymphocyte clone detected at 23 years of age. This clone showed nonrandom loss of chromosome # 14, a karyotypic abnormality not previously described in AT. Eighteen months later, evolution of the monosomic clone was noted; the karyotype of this latter clone was 45,XX,-14,del(6) (q21). The patient died of Hodgkin's disease of mixed cellularity type, Stage IIIB, a few months later. A striking histological features of a lymph node biopsy was the presence of numerous epithelioid histiocytes. The patient's paternal first cousin also suffers from AT.