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

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.