16q部分三体的FISH鉴定。患者报告及文献回顾。

Annales de genetique Pub Date : 1999-01-01

J J Engelen, C E De Die-Smulders, P T Vos, L E Meers, J C Albrechts, A J Hamers

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摘要

16q部分三体的FISH特征:一名患者的报告和文献回顾:我们报告了一名28岁的男性患者，患有严重的生长发育和智力迟钝，严重的行为问题，特别是自动操作，以及痉挛性四肢瘫痪。他没有表现出特殊的畸形。核型为46,XY, dir dup(16) (q11.2-q13)。临床和细胞遗传学结果与先前报道的3例近端重复16q病例进行了比较。

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Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.

Characterization of a partial trisomy 16 q with FISH: Report of a patient and literature review: We report on a 28-year-old male patient with severe growth and mental retardation, severe behavioural problems, especially automutilation, and a spastic quadriplegia. He showed no specific dysmorphism. The karyotype was 46, XY, dir dup(16) (q11.2-q13). The clinical and cytogenetical findings are compared with 3 previously reported cases with proximal duplication 16q.

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Annales de genetique

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