间隙性“从头”串联重复7(q31.1-q35):首次报道病例

Annales de Génétique Pub Date : 2003-01-01 DOI:10.1016/S0003-3995(03)00007-8

L. Zelante, A.I. Croce, A. Grifa, A. Notarangelo, S. Calvano

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引用次数: 6

摘要

本文报道一名携带7q31-35重复基因的患者。FISH分析证实了串联重复。该病例似乎是文献中的首例，尽管复制区域很大，但他表现出轻度面部畸形和中度智力迟钝。临床发现的dup7q发表的病例进行比较，以确定一个可能的共同表型。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Interstitial “de novo” tandem duplication of 7(q31.1-q35): first reported case

A patient carrying a de novo 7q31-35 duplication is presented. The tandem duplication was confirmed by FISH analysis. The case seems to be the first in the literature and, in spite of the large size of the duplicated region, he shows mild facial dysmorphism and a moderate mental retardation. The clinical findings of the dup7q published cases are compared in order to define a possible common phenotype.

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Annales de Génétique

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