在纯1q部分三体的成年男性患者中,颧突是最显著的生理异常。

Annales de genetique Pub Date : 1998-01-01
T Lukusa, G Van Buggenhout, K Devriendt, J Meireleire, G Van Goethem, L Roelen, J P Fryns
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引用次数: 0

摘要

我们报告了一例畸形和智力迟钝的成年男性患者,由于1q32.3- >q42区域的“从头”串联重复而导致部分1q三体。畸形特征包括面部不对称、斜指、右外斜视、牙齿畸形和双侧III-IV指和II-III趾并指,引起颧活动。将本观察结果与先前报道的包括1号染色体片段(q32- >q42)的纯重复病例进行临床比较。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.

We report on a dysmorphic and mentally retarded adult male patient with partial trisomy 1q resulting from a "de novo" tandem duplication of the 1q32.3-->q42 region. The dysmorphic features consisted of facial asymmetry, synophrys, right external strabismus, teeth anomalies and bilateral syndactyly of fingers III-IV and toes II-III evoking zygodactyly. Clinical comparison is made between the present observation and previously reported cases with pure duplication including the chromosome 1 segment (q32-->q42).

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