Abstract：
UNASSIGNED: To examine the link between tremor and sex chromosome abnormalities, emphasizing the necessity of comprehensive physical examination.
UNASSIGNED: An 18-year-old man exhibited an isolated action tremor in both hands. Despite having no familial history of tremors and no identifiable secondary causes, his tall stature and learning difficulties suggested a genetic origin. His karyotype confirmed the diagnosis of Jacob\'s syndrome (XYY syndrome). Therapies with primidone and propranolol were ineffective for his tremor.
UNASSIGNED: Tremor can be caused by various conditions, and aneuploidies might often be overlooked as a cause. They should be considered in young patients with concrete phenotypes and negative familiar history of tremors. Karyotyping is a cost-effective diagnostic tool crucial for genetic counselling. Common treatments for tremors often yield unsatisfactory results in these cases.
UNASSIGNED: An 18-year-old man exhibited an isolated action tremor in both hands. Despite having no familial history of tremors and no identifiable secondary causes, his tall stature and learning difficulties suggested a genetic origin. His karyotype confirmed the diagnosis of Jacob\'s syndrome (XYY syndrome). Therapies with primidone and propranolol were ineffective for his tremor.
UNASSIGNED: Tremor can be caused by various conditions, and aneuploidies might often be overlooked as a cause. They should be considered in young patients with concrete phenotypes and negative familiar history of tremors. Karyotyping is a cost-effective diagnostic tool crucial for genetic counselling. Common treatments for tremors often yield unsatisfactory results in these cases.
摘要：
■为了检查震颤与性染色体异常之间的联系，强调全面体检的必要性。
■一名18岁男子双手出现孤立的动作震颤。尽管没有家族性震颤史，也没有可识别的次要原因，他身材高大和学习困难表明他有遗传起源。他的核型证实了雅各布综合征（XYY综合征）的诊断。扑米酮和普萘洛尔的治疗对他的震颤无效。
■震颤可能是由各种条件引起的，和非整倍体可能经常被忽视的原因。在具有具体表型和阴性熟悉的震颤史的年轻患者中，应考虑它们。核型分析是一种具有成本效益的诊断工具，对遗传咨询至关重要。在这些情况下，震颤的常见治疗通常会产生不令人满意的结果。
■一名18岁男子双手出现孤立的动作震颤。尽管没有家族性震颤史，也没有可识别的次要原因，他身材高大和学习困难表明他有遗传起源。他的核型证实了雅各布综合征（XYY综合征）的诊断。扑米酮和普萘洛尔的治疗对他的震颤无效。
■震颤可能是由各种条件引起的，和非整倍体可能经常被忽视的原因。在具有具体表型和阴性熟悉的震颤史的年轻患者中，应考虑它们。核型分析是一种具有成本效益的诊断工具，对遗传咨询至关重要。在这些情况下，震颤的常见治疗通常会产生不令人满意的结果。
