Stuart Scott W, King Casey H, Pai G Shashidar
Developmental Pediatrics Medical University of South Carolina, Children's Hospital, Charleston, South Carolina, USA.
MedGenMed. 2007 Dec 18;9(4):60.
Autism spectrum disorders are heterogeneous in nature with idiopathic and genetic origins. We present a 7-year-old boy with a long history of multiple behavioral concerns, poor school performance, repetitive/compulsive tendencies, poor social skills, and language delays. A multidisciplinary evaluation concluded that the patient met full criteria for autism. A genetic evaluation demonstrated Klinefelter syndrome 47, XXY karyotype with concurrent duplication of 3p21.31 by microarray analysis. Maternal genetic analysis demonstrated the same 3p21.31 duplication. The potential implication with regard to autism spectrum disorders has not been previously discussed in the literature.
自闭症谱系障碍本质上具有异质性，其起源包括特发性和遗传性。我们报告一名7岁男孩，他长期存在多种行为问题、学业成绩差、有重复/强迫倾向、社交技能差以及语言发育迟缓。多学科评估得出结论，该患者符合自闭症的全部标准。基因评估显示该患者为克兰费尔特综合征47, XXY核型，通过微阵列分析同时存在3p21.31重复。母亲的基因分析显示存在相同的3p21.31重复。关于自闭症谱系障碍的潜在影响，此前文献中尚未进行过讨论。
