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13号染色体家族性臂间倒位导致13q22至qter重复。

Familial pericentric inversion of chromosome 13 resulting in duplication 13q22 to qter.

作者信息

Habedank M

出版信息

J Med Genet. 1982 Jun;19(3):227-9. doi: 10.1136/jmg.19.3.227.

Abstract

A 10-year-old male with a recombinant (13)dup q chromosome is reported. The recombinant chromosome originated from a maternal pericentric inversion which was present in two of his four normal sibs. A segregation analysis of 60 pregnancies from which one of the parents was a carrier of inv(13) showed a significant predominance of males among the viable offspring.

摘要

报告了一名患有重组(13)dup q染色体的10岁男性。该重组染色体源于母亲的臂间倒位,其四个正常同胞中有两个也存在这种倒位。对一方父母为inv(13)携带者的60次妊娠进行的分离分析显示,存活后代中男性明显占优势。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb23/1048873/f8bd45330562/jmedgene00113-0069-a.jpg

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