父亲顺中心插入(或臂内移位)后畸形儿童的间质缺失(3)(p12p21) 46,XY, ins(3)(p24.1p12.1p21.31)。

Annales de genetique Pub Date : 1998-01-01
R A Pfeiffer, A Rauch, R Ulmer, E Beinder, U Trautmann
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引用次数: 0

摘要

我们报告了一个畸形的死产与缺失3p后直接顺中心插入(臂内移位)在正常的父亲曾被误认为是顺中心倒置。中期染色体定位标记的FISH支持了正确的诊断。此外,我们在精子中寻找重组体。这一观察结果提醒了类似的情况,被认为是例外的预期减数分裂重组的准中心倒置,并指出一个细胞遗传学的陷阱。简要地引用了已发表的删除和3p的顺中心反转。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Interstitial deletion del(3)(p12p21) in a malformed child subsequent to paternal paracentric insertion (or intraarm shift) 46,XY, ins(3)(p24.1p12.1p21.31).

We report on a malformed stillborn with deletion 3p subsequent to direct paracentric insertion (intraarm shift) in the normal father which had been first mistaken for paracentric inversion. The corrected diagnosis was supported by FISH of mapped markers on metaphase chromosomes. In addition we looked for recombinants in sperm. This observation reminds similar cases that had been considered exceptions to the expected meiotic recombination of paracentric inversions and points to a cytogenetic pitfall. Published deletions and paracentric inversions in 3p are briefly quoted.

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