1例新生易位16;21:16q三体的表型和畸变的起源。

Annales de genetique Pub Date : 1998-01-01
T Eggermann, I Kolin-Gerresheim, F Gerresheim, G Schwanitz
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引用次数: 0

摘要

一位患有严重先天性异常的男性新生儿被描述为新生易位16;21导致16q三体。临床特征与文献报道的16q三体病例一致。分子分析表明重排的形成机制仅限于受精卵后有丝分裂。因此,父母的复发风险很低。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of de novo translocation 16;21: trisomy 16q phenotype and origin of the aberration.

A male newborn with severe congenital abnormalities is described with a de-novo translocation 16;21 resulting in trisomy 16q. Clinical features were consistent with trisomy 16q cases reported in the literature. Molecular analysis indicate a formation mechanism of the rearrangement restricted to postzygotic mitosis. Therefore, a low recurrence risk for the parents could be delineated.

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