Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study

Mortality and cancer incidence were assessed in a cohort of 1373 patients w ith numerical sex chromosome abnormalities diagnosed at three cytogenetics centres in Britain during 1959-90, and were compared with expectations from national rates. four hundred patients with Turner's syndrome were followed , of whom 62 died, with a relative risk (RR) of death of 4.16 (95% confide nce interval (CI) 3.22-5.39). Turner's syndrome patients had greatly raised risks of death from diseases of the nervous, cardiovascular, respiratory, digestive and genitourinary systems. One hundred and sixty three deaths occ urred among 646 patients with Klinefelter's syndrome with a 47,XXY constitu tion, giving an RR of 1.63 (1.40-1.91). Mortality in these patients was sig nificantly raised from diabetes amd diseases of the cardiovascular, respira tory and digestive systems. These was also significantly increased mortalit y for patients with X polysomy (RR = 2.11 (1.43-3.02)) and Y polysomy (RR = 1.90 (1.20 2.85)), the former with significantly increased mortality from cardio-vascular disease and the latter form respiratory disease. The only s ignificantly raised risks of cancer incidence or mortality in the cohort we re for lung cancer and breast cancer in patients with Klinefelter's syndrom e with a 47,XXY constitution, and non-Hodgkin's lymphoma in men with more t han three sex chromosomes.