Phelan-McDermid综合征临床及微阵列比较基因组杂交芯片技术分析

摘要

Objective To analyze the clinical features and results of array-comparative genomic hybridization (array CGH, aCGH) in a Chinese girl with Phelan-McDermid syndrome. Methods The clinical symptoms of a child with Phelan-Mc-Dermid syndrome were retrospectively analyzed. Routine G-banding was performed to analyze the karyotype, and the aCGH was used to analyze subchromosomal abnormalities. Results The routine karyotype analysis showed a normal female karyotype without abnomalities in chromosome number and structure. aCGH analysis finely mapped the deletion of Chr22q13.2-qter. Phel-an-McDermid syndrome was diagnosed for this case. Conclusions Phelan-McDermid syndrome can be diagnosed by the typi-cal and detailed clinical features in combination with the laboratory examinations of subchromosomal abnormalities. aCGH is one of the most valuable methods to analyze subchromosomal abnormalities and to diagnose Phelan-McDermid syndrome.%目的：探讨Phelan-McDermid综合征的临床表现及微阵列比较基因组杂交芯片技术（array CGH，aCGH）结果。方法回顾性分析1例Phelan-McDermid综合征患儿的临床资料；采用常规G显带分析染色体核型，运用aCGH检测全染色体微小改变。结果患儿染色体核型示正常女性核型，未发现染色体数目及结构异常；aCGH分析发现Chr22q13.2-qter缺失，并排除其他染色体微改变；确诊为Phelan-McDermid综合征。结论通过典型的临床表现和染色体微改变相关实验室检查可确诊Phelan-McDermid综合征；aCGH技术对于筛查该病并排除其他染色体微改变最有意义。