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布卢姆综合征XI。1983年进展报告。

Bloom's syndrome XI. Progress report for 1983.

作者信息

German J, Bloom D, Passarge E

出版信息

Clin Genet. 1984 Feb;25(2):166-74. doi: 10.1111/j.1399-0004.1984.tb00480.x.

Abstract

During the 30 years since its description as a clinical entity, Bloom's syndrome has been diagnosed in more than 100 persons. It is believed that most of these have been accessioned to the Bloom's Syndrome Registry, which now includes 103 persons. Of those 103, 80 are alive, with a mean age of 18.2 years. Twenty-eight malignant neoplasms have been detected, at a mean age of 20.7 years. Periodically, progress reports are being made in this journal of the long-term surveillance of affected families.

摘要

自被描述为一种临床实体以来的30年间,已有100多人被诊断出患有布卢姆综合征。据信,其中大多数已被纳入布卢姆综合征登记处,该登记处目前有103人。在这103人中,80人健在,平均年龄为18.2岁。已检测到28例恶性肿瘤,平均年龄为20.7岁。本杂志定期发表有关对受影响家庭进行长期监测的进展报告。

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