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Updated: May 11, 2026

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病例报告:一个患有17p13.3微复制综合征的患者的复发性猫

Ilya Querter1,2, Nika Schuermans3, Nele Van de Velde2

  • 1Department of Head and Skin - Psychiatry, Ghent University, Ghent, Belgium.

Frontiers in psychiatry
|July 11, 2025
PubMed
概括

复发性猫可能标志着潜在的遗传条件,如17p13.3微复制综合征. 早期遗传检测对于诊断和治疗神经发育障碍患者的白内障至关重要.

关键词:
17p13.3 微复制综合征 17p13.3 微复制综合征案例报告案例报告卡塔托尼亚 (catatonia) 是一个城市.抑郁 抑郁症 抑郁症 抑郁症 抑郁症遗传评估 遗传评估 遗传评估 遗传评估

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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...