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导致两个同父异母兄弟姐妹出现13号染色体长臂重复(dup(13q))的父源(13号染色体长臂;15号染色体长臂)易位的起源。

Origin of a paternal (13q;15q) translocation leading to dup(13q) in two half sibs.

作者信息

De los Cobos L F

出版信息

Am J Med Genet. 1983 Apr;14(4):617-23. doi: 10.1002/ajmg.1320140404.

Abstract

We report on two half-sibs, a male and a female with dup(13)(q1405 leads to qter) that resulted from a der(15),t(13;15)(15qter leads to 15q25::13q1405 leads to 13qter), h+, pat. Their manifestations were similar to those with duplication of the distal half 13q. The father was a balanced de novo translocation carrier. Since the der(15) had a long secondary constriction, it was possible to trace the site of the mutation to the germ cell of the patients paternal grandmother who had this distinctive long secondary constriction in one of her normal 15 chromosomes.

摘要

我们报告了两个半同胞,一男一女,患有dup(13)(q1405→qter),其源自der(15),t(13;15)(15qter→15q25::13q1405→13qter),h+,pat。他们的表现与13q远端半段重复的患者相似。父亲是一名平衡的新发易位携带者。由于der(15)有一个长的次缢痕,有可能将突变位点追溯到患者祖母的生殖细胞,她的一条正常15号染色体有这种独特的长次缢痕。

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