作者: Craig D. Higgins , Anthony J. Swerdlow , Minouk J. Schoemaker , Alan F. Wright , Patricia A. Jacobs
DOI: 10.1007/S00439-007-0365-8
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摘要: The mortality and cancer incidence risks among males with Y polysomy are unknown because there have been no large long-term cohort studies carried out of such men. We conducted a study 667 men diagnosed the abnormality in Britain since 1959 to compare their rates those general population. Sixty deaths occurred during follow-up December 2005, twice number expected from population (standardised ratio (SMR) = 2.0 (95% confidence interval (CI) 1.5-2.6)). Significantly raised was observed for diseases nervous system (SMR 7.0, 95% CI: 2.3-16.4), circulatory 2.1, 1.3-3.2), respiratory 4.0, 1.8-7.5), genitourinary 10.2, 1.2-36.9), congenital anomalies 11.9, 3.2-30.5). Four five were epilepsy, risk death this condition being more than 20-fold raised. these not significantly different This provides evidence that several specific causes polysomy. use data genetic counselling should be cautious particularly cases detected prenatally. Further investigations required confirm findings elucidate possible role genes on chromosome aetiology death.