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母亲和女儿的18号染色体长臂缺失(作者译)

[18 q deletion in mother and daughter (author's transl)].

作者信息

Sulzer M, Zierler H

出版信息

Wien Klin Wochenschr. 1976 Sep 17;88(17):571-5.

PMID:997544
Abstract

Transmission of 18 q deletion from a mother to her daughter is described in this report. By means of diverse banding techniques the same deletion was proven in both cases. Partial deletion on the long arm of chromosome 18 produces typical malformations and clinical characteristics which are compatible with life. In case of propagation it can be transmitted as a dominant characteristic.

摘要

本报告描述了18号染色体长臂缺失从母亲传给女儿的情况。通过多种显带技术,证实两例均存在相同的缺失。18号染色体长臂的部分缺失会产生典型的畸形和与生命相容的临床特征。在传播的情况下,它可以作为显性特征遗传。

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