A case report of an autistic girl with an extra bisatellited marker chromosome.

A Hansen, B H Brask, J Nielsen, K Rasmussen, I Sillesen
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引用次数: 20

Abstract

Cytogenetic examination of a 14-year-old severely retarded girl revealed a karyotype of 47 chromosomes with an extra bisatellited chromosome, a translocation between No. 22 and a chromosome in the D group. The girl had presented an early autistic syndrome beginning about 6 months of age during plastering for a congenital luxation of the hips and receding from the age of 5. In addition, she was hyperkinetic with various aggressive and auto-aggressive traits and had atypical minor epileptic fits. Data from child psychiatric examinations at 5 and 14 years are presented. The importance of giving parents information as early as possible about biological causes of mental retardation and mental illness is stressed.

孤独症女孩多出双卫星标记染色体一例报告。
对一名14岁的严重弱智女孩进行细胞遗传学检查,发现核型为47条染色体,多了一条双卫星染色体,在22号染色体和D组的一条染色体之间易位。这名女孩在6个月大的时候出现了早期的自闭症症状,当时正在为先天性髋关节脱位进行石膏治疗,从5岁开始逐渐消退。此外,她是多动的,具有各种攻击和自身攻击特征,并有非典型的轻微癫痫发作。本文介绍了5岁和14岁儿童精神病学检查的数据。强调尽早向父母提供有关智力迟钝和精神疾病的生物学原因的信息的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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