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短臂10三体的风险。对11个具有不同易位的家族进行的分离分析。

Risk for short arm 10 trisomy. A segregation analysis of eleven families with different translocations.

作者信息

Stene J, Stengel-Rutkowski S

出版信息

Hum Genet. 1977 Nov 2;39(1):7-13. doi: 10.1007/BF00273148.

Abstract

A segregation analysis has been carried out for 11 families with trisomy 10p caused by familial translocations involving a segment of the short arm of chromosome 10. The theoretical basis for the analysis is considered in some detail. No differences were found between the segregation pattern in the offspring of carrier mothers and that of carrier fathers. There was a high risk for offspring with trisomy 10p (22%). A phenotypically normal descendant also has a high risk of becoming a balanced translocation carrier (71%). This result does not deviate significantly from the theoretical value of 50%.

摘要

对11个因涉及10号染色体短臂片段的家族性易位而导致10号染色体短臂三体的家庭进行了分离分析。详细考虑了该分析的理论基础。在携带三体的母亲和携带三体的父亲的后代中,分离模式没有发现差异。10号染色体短臂三体的后代有很高的风险(22%)。表型正常的后代成为平衡易位携带者的风险也很高(71%)。这一结果与50%的理论值没有显著偏差。

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