BACKGROUND Deletion or duplication on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotype including.intellectual disability and autism. CASE PRESENTATION We report on a patient with intellectual disability and a 763.3 Kb duplication on 1q43 that includes only CHRM3, which was detected by next generation sequencing (NGS). The patient presented with intellectual disability, developmental delay, autistic behavior, limited or no speech, social withdrawal, self-injurious, feeding difficulties, strabismus, short stature, hand anomalie, and no seizures, anxiety, or mood swings, and clinodactyly. CONCLUSIONS We propose that CHRM3 is the critical gene responsible for the common characteristics in the cases with 1q43 duplication and deletion.

中文翻译：

---

构成性 763.3 Kb 染色体 1q43 重复，仅包含通过下一代测序 (NGS) 在智障儿童中鉴定的 CHRM3 基因。

背景技术1号染色体长臂远端部分的缺失或重复导致复杂且高度可变的临床表型，包括智力残疾和自闭症。病例介绍 我们报告了一名智力障碍患者，其 1q43 上存在 763.3 Kb 重复，其中仅包含 CHRM3，通过下一代测序 (NGS) 检测到。患者出现智力障碍、发育迟缓、自闭症行为、言语受限或无言语、社交退缩、自残、喂养困难、斜视、身材矮小、手部异常，无癫痫发作、焦虑或情绪波动，以及临床指征。结论 我们认为 CHRM3 是导致 1q43 重复和缺失病例的共同特征的关键基因。