BACKGROUND This is a case with multiple chromosomal aberrations which are likely etiological for the observed psychiatric phenotype consisting of attention deficit hyperactivity and conduct disorders. CASE PRESENTATION We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory. A cytogenetic analysis and high-resolution microarray comparative genomic hybridization (CGH) analysis was performed. The cytogenetic analysis revealed 47,XYY syndrome, while CGH analysis revealed an additional duplication and two deletions. The 7q11.23 duplication is associated with speech and language delay and behavioral symptoms, a 20q13.33 deletion is associated with autism and early onset schizophrenia and the 11p15.5 microdeletion is associated with developmental delay, autism, and epilepsy. The patient underwent a psychiatric history, physical examination, laboratory testing, and a detailed cognitive, psychiatric, and occupational therapy evaluation which are reported here in detail. CONCLUSIONS In the case of psychiatric patients presenting with complex genetic aberrations and additional psychosocial problems, traditional psychiatric and psychological approaches can lead to significantly improved functioning. Genetic diagnostic testing can be highly informative in the diagnostic process and may be applied to patients in psychiatry in case of complex clinical presentations.

中文翻译：

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一名患有品行障碍 (CD)、注意力缺陷多动障碍 (ADHD)、边缘性智力障碍和 47,XXY 综合征以及 7q11.23 重复、11p15.5 缺失和 20q13.33 缺失的男孩。


背景这是一个具有多种染色体畸变的病例，这些畸变可能是观察到的由注意力缺陷多动和品行障碍组成的精神表型的病因。病例介绍 我们报道一名 11 岁男孩，他因行为困难和神经发育轨迹延迟被送进儿科医院。进行了细胞遗传学分析和高分辨率微阵列比较基因组杂交（CGH）分析。细胞遗传学分析显示 47,XYY 综合征，而 CGH 分析显示额外的重复和两个缺失。 7q11.23重复与言语和语言发育迟缓以及行为症状有关，20q13.33缺失与自闭症和早发性精神分裂症有关，11p15.5微缺失与发育迟缓、自闭症和癫痫有关。患者接受了精神病史、体格检查、实验室检查以及详细的认知、精神病学和职业治疗评估，此处详细报告。结论 对于存在复杂遗传畸变和其他心理社会问题的精神病患者，传统的精神病学和心理学方法可以显着改善功能。基因诊断测试可以在诊断过程中提供大量信息，并且可以应用于精神病学患者的复杂临床表现。