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A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion.
Child and Adolescent Psychiatry and Mental Health ( IF 5.6 ) Pub Date : 2016-09-22 , DOI: 10.1186/s13034-016-0121-8
Gerasimos Kolaitis 1 , Christian G Bouwkamp 2 , Alexia Papakonstantinou 3 , Ioanna Otheiti 3 , Maria Belivanaki 3 , Styliani Haritaki 3 , Terpsihori Korpa 3 , Zinovia Albani 3 , Elena Terzioglou 3 , Polyxeni Apostola 3 , Aggeliki Skamnaki 3 , Athena Xaidara 4 , Konstantina Kosma 5 , Sophia Kitsiou-Tzeli 5 , Maria Tzetis 5
Affiliation  

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:

患有行为障碍(CD),注意力缺陷多动障碍(ADHD),边缘性智力障碍和47,XXY综合征的男孩,并伴有7q11.23重复,11p15.5缺失和20q13.33缺失。

背景技术这是具有多种染色体畸变的情况,其对于所观察到的由注意缺陷多动症和行为障碍组成的精神病学表型可能是病因学上的。病例介绍我们报告了一个11岁的男孩,他因行为困难和神经发育轨迹延迟而被送入儿科医院。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分析显示另外一个重复和两个缺失。7q11.23重复与语音和语言延迟以及行为症状相关,20q13.33缺失与自闭症和早期精神分裂症相关,11p15.5微缺失与发育延迟,自闭症,和癫痫病。患者接受了精神病史,身体检查,实验室检查以及详细的认知,精神病学和职业治疗评估,在此进行了详细报道。结论对于精神病患者表现出复杂的遗传畸变和其他心理社会问题,传统的精神病学和心理治疗方法可以显着改善机能。遗传诊断测试可以在诊断过程中提供大量信息,并且可以在复杂的临床表现情况下应用于精神病学患者。结论对于精神病患者表现出复杂的遗传畸变和其他心理社会问题,传统的精神病学和心理治疗方法可以显着改善机能。遗传诊断测试可以在诊断过程中提供大量信息,并且可以在复杂的临床表现情况下应用于精神病学患者。结论对于精神病患者表现出复杂的遗传畸变和其他心理社会问题,传统的精神病学和心理治疗方法可以显着改善机能。遗传诊断测试可以在诊断过程中提供大量信息,并且可以在复杂的临床表现情况下应用于精神病学患者。
更新日期:2016-09-15
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