Abstract：
Microarray-based techniques are an important testing method in etiological studies of intellectual disability and autism spectrum disorder. Interstitial deletion in the p11-p12 region of chromosome 10 is rare, having been reported in just 12 cases to date. Intellectual disability associated with the WAC gene in this region is referred to as DeSanto-Shinawi syndrome . Although all individuals with p11-p12 region of chromosome 10 deletion share a common phenotype involving intellectual disability and dysmorphic features, individuals with DeSanto-Shinawi syndrome usually do not experience the cardiac and neurologic abnormalities or cryptorchidism associated with a 10p11-p12 deletion. With this case report, we aim to expand the phenotypic spectrum of 10p11-p12 deletion. Our patient was a 9-year-old boy with intellectual disability, autism symptoms, dysmorphic features, and behavioral abnormalities. He had no cardiac problems or neurologic symptoms such as hypotonia, feeding difficulties, or seizures. However, he presented cryptorchidism in addition to symptoms that are consistent with DeSanto-Shinawi syndrome. Array comparative genomic hybridization of genomic DNA isolated from a peripheral blood sample revealed a heterozygous deletion in 10p11.23-p12.1, which contains the WAC gene. We discuss our case in the context of a literature review of candidate genes. It is still difficult to establish genotype-phenotype correlations for neurologic, cardiac, and visual symptoms, and cryptorchidism, in individuals with a 10p11-p12 deletion. As more individuals are diagnosed with deletion in this chromosomal region, the associated phenotypes will become clearer.
摘要：
在智力障碍和自闭症谱系障碍的病因研究中，基于微阵列的技术是重要的测试方法。染色体10的p11-p12区域的间质缺失很少见，到目前为止只报告了12例。该区域中与WAC基因相关的智力障碍被称为DeSanto-Shinawi综合征。尽管所有具有10号染色体p11-p12区域缺失的个体都具有涉及智力障碍和畸形特征的共同表型，DeSanto-Shinawi综合征患者通常不会出现与10p11-p12缺失相关的心脏和神经系统异常或隐睾.有了这个病例报告,我们的目的是扩大10p11-p12缺失的表型谱。我们的病人是一个智力残疾的9岁男孩，自闭症症状,变形特征，和行为异常。他没有心脏问题或神经症状，如张力减退，喂养困难，或癫痫发作。然而,除了与DeSanto-Shinawi综合征一致的症状外，他还出现了隐睾。从外周血样品中分离的基因组DNA的阵列比较基因组杂交显示，在包含WAC基因的10p11.23-p12.1中存在杂合缺失。我们在候选基因的文献综述中讨论了我们的案例。仍然很难建立神经系统的基因型-表型相关性，心脏,和视觉症状，和隐睾,在具有10p11-p12缺失的个体中。随着越来越多的人被诊断为该染色体区域缺失，相关的表型将变得更加清晰。
