Phelan-McDermid综合征1例  

A case report of Phelan-McDermid syndrome

作　　者：栗英 程丽 张文知 殷瑜宏 吴小艳[1] LI Ying;CHENG Li;ZHANG Wenzhi;YIN Yuhong;WU Xiaoyan(Department of Pediatrics,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430022,China)

机构地区：[1]华中科技大学同济医学院附属协和医院儿科,湖北武汉430022

出　　处：《中国优生与遗传杂志》2023年第5期1028-1031,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的 探讨Phelan-McDermid综合征(PMS)患者的临床表型和基因型特点。方法 回顾性分析华中科技大学附属协和医院儿科确诊的1例PMS患儿的临床和遗传学资料,并结合文献对其基因型和表型进行详尽分析。结果 患儿,男,3岁5个月,全面性发育迟缓,自闭症样行为,既往有反复呼吸道感染。全外显子拷贝数变异检测:染色体22q13.31~q13.33区域杂合缺失,缺失大小为6.7 Mb,确诊为PMS。结论 PMS较为罕见,临床表型和基因型复杂多变,易引起误诊。本研究丰富了PMS的临床及遗传学特征,为临床诊断和遗传咨询提供重要依据。Objective To investigate the clinical phenotype and genetic features of patients with Phelan-McDermid syndrome(PMS).Methods We retrospectively analyzed the clinical features of a child with PMS diagnosed in the Department of Pediatrics,Union Hospital of Huazhong University of Science and Technology,and the genotype and phenotype of the child were analyzed in detail combined with literature.Results A 3 year's old boy presented with global developmental delay,autism-like behaviors,and recurrent infections of upper respiratory tract.Copy number variation sequencing analysis of the patients revealed a heterozygous deletion involving the 22q13.31-22q13.33 region with a deletion size of 6.7 Mb,thus the boy was diagnosed as PMS.Conclusion PMS is a rare disease with heterogenous clinical phenotypes and genotypes,which might easily lead to misdiagnosis.Our study enriched the clinical and genetic features of PMS,and provided an important basis for clinical diagnosis and genetic counseling.

关 键 词：Phelan-McDermid综合征 临床表型 基因型 

分 类 号：R596[医药卫生—内科学]