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Abstract：
The chromosomal 15q11-q13 regions are structurally complex, and their abnormalities are associated with various neuropsychiatric disorders, including autism spectrum disorder (ASD), epilepsy, Angelman syndrome, and Prader-Willi syndrome.
A 6-year-old child was admitted to the hospital as a result of an \"epileptic status\" showing ASD, intractable epilepsy, and total developmental retardation. Chromosome gene detection showed repetitive variation in the 15q11-q13 regions, and the video electroencephalogram was abnormal. Although children are currently given antiepileptic treatment and rehabilitation training, intermittent seizures can still occur.
The clinical phenotypes of 15q11-q13 repetitive syndrome are complex, and vary in severity. Children with intractable epilepsy, ASD, and language and motor retardation should be considered to have this syndrome, which requires confirmation by multiplex ligation-dependent probe amplification and gene detection. These approaches can enable early rehabilitation treatment and improve the patients\' quality of life.
A 6-year-old child was admitted to the hospital as a result of an \"epileptic status\" showing ASD, intractable epilepsy, and total developmental retardation. Chromosome gene detection showed repetitive variation in the 15q11-q13 regions, and the video electroencephalogram was abnormal. Although children are currently given antiepileptic treatment and rehabilitation training, intermittent seizures can still occur.
The clinical phenotypes of 15q11-q13 repetitive syndrome are complex, and vary in severity. Children with intractable epilepsy, ASD, and language and motor retardation should be considered to have this syndrome, which requires confirmation by multiplex ligation-dependent probe amplification and gene detection. These approaches can enable early rehabilitation treatment and improve the patients\' quality of life.
摘要：
染色体15q11-q13区域结构复杂，它们的异常与各种神经精神疾病有关，包括自闭症谱系障碍（ASD），癫痫,Angelman综合征,和Prader-Willi综合征.
一名6岁儿童因出现ASD的“癫痫状态”而入院，难治性癫痫,和完全发育迟缓。染色体基因检测显示15q11-q13区域的重复性变异，视频脑电图异常。虽然目前儿童接受抗癫痫治疗和康复训练,间歇性癫痫仍然可能发生。
15q11-q13重复综合征的临床表型复杂，和不同的严重程度。儿童难治性癫痫，ASD,语言和运动迟缓应该被认为有这种综合征，这需要通过多重连接依赖性探针扩增和基因检测来确认。这些方法可以使早期康复治疗和提高患者的生活质量。
一名6岁儿童因出现ASD的“癫痫状态”而入院，难治性癫痫,和完全发育迟缓。染色体基因检测显示15q11-q13区域的重复性变异，视频脑电图异常。虽然目前儿童接受抗癫痫治疗和康复训练,间歇性癫痫仍然可能发生。
15q11-q13重复综合征的临床表型复杂，和不同的严重程度。儿童难治性癫痫，ASD,语言和运动迟缓应该被认为有这种综合征，这需要通过多重连接依赖性探针扩增和基因检测来确认。这些方法可以使早期康复治疗和提高患者的生活质量。
