Case report of an adult woman with Phelan-McDermid-Syndrome

We present the case of a 41-year-old woman with a history of global developmental delay, intellectual disability, microcephaly (head circumference 52.5 cm), and left eye exotropia. Since her early 30s, she has experienced episodes of unexplained confusion. Cranial MRI revealed mild cortical and subcortical atrophy, predominantly in the frontal and temporal lobes. Extended copy number analysis based on exome sequencing identified a heterozygous deletion of approximately 785 kb at chromosome 22q13.33 (NC_000022.11:g.49997038_50782295del), including the entire SHANK3 gene. Whether one of the parents carries a balanced chromosomal rearrangement has not yet been investigated.

本研究报告1例41岁女性患者，既往有全面发育迟缓、智力障碍、小头畸形（头围52.5cm）及左眼外斜视病史。患者自30岁出头起，出现无明确诱因的意识模糊发作。颅脑MRI（cranial MRI）检查显示其存在轻度皮质及皮质下萎缩，以额叶和颞叶受累为主。基于外显子测序的扩展拷贝数分析发现，患者22号染色体q13.33区域存在一段约785kb的杂合缺失（NC_000022.11:g.49997038_50782295del），缺失区域涵盖完整的SHANK3基因。目前尚未对其父母之一是否携带平衡染色体重排进行相关检测。