儿童Potocki-Lupski综合征1例报告并文献回顾  

Potocki-Lupski Syndrome in Children:A Case Report and Literature Review

作　　者：王超杰[1] 张耀东 李瑞[1] 张振华[1] 陈白云 李东晓 WANG Chao-jie;ZHANG Yao-dong;LI Rui;ZHANG Zhen-hua;CHEN Bai-yun;LI Dong-xiao(Department of Henan Provincial Key Laboratory of Children’s Genetic and Metabolic Diseases,Children’s Hospital Affiliated to Zhengzhou University,Henan Provincial Children’s Hospital,Zhengzhou Children’s Hospital,Zhengzhou 450018,Henan Province,China)

机构地区：[1]郑州大学附属儿童医院/河南省儿童医院/郑州儿童医院/河南省儿童遗传代谢性疾病重点实验室,河南郑州450018

出　　处：《罕少疾病杂志》2022年第11期19-20,25,共3页Journal of Rare and Uncommon Diseases

摘　　要：目的提高对Potocki-Lupski综合征基因型及表型的认识。方法回顾分析1例Potocki-Lupski综合征患儿的临床资料,并复习相关文献。结果女性患儿,1岁1月,自出生后全面发育落后、喂养困难、反应迟钝、特殊面容、指、趾畸形、嗜睡等。应用比较基因组杂交芯片技术(array-CGH)检测发现患儿17p11.2区域存在4.8Mb片段重复:arr[hg19]17p12p11.2(15748783-20564268)×3,确诊为Potocki-Lupski综合征。结论Potocki-Lupski综合征临床表型无明显特异性,及早应用微阵列基因芯片分析有助于早期诊断。Objective To improve the understanding of genotype and phenotype of Potocki-Lupski syndrome.Methods The clinical data of Potocki-Lupski syndrome in a child were analyzed,and the relevant literature was reviewed.Results A girl,aged 1 year 1 month,presented with global developmental delay since birth,feeding difficulties,lags in response,special facial features,deformity of toes and fingers,drowsiness.Array-CGH analysis has identified a de novo 4.8 Mb duplication at 17p11.2(arr[hg19]17p12p11.2(15748783-20564268)×3)in the child.She was diagnosed with Potocki-Lupski syndrome finally.Conclusion The clinical phenotype of the Potocki-Lupski syndrome has no obvious specificity,Early application of Array-CGH is helpful for genetic diagnosis.

关 键 词：Potocki-Lupski综合征 比较基因组杂交芯片 RAI1基因 

分 类 号：R596[医药卫生—内科学]