Phelan-McDermid综合征临床及微阵列比较基因组杂交芯片技术分析

临床儿科杂志 ›› 2014, Vol. 32 ›› Issue (6): 579-582.

Phelan-McDermid综合征临床及微阵列比较基因组杂交芯片技术分析

张红运，王曦

重庆医科大学附属儿童医院康复科，儿童发育疾病研究部共建教育部重点实验室，儿科学重庆市重点实验室，重庆市儿童发育重大疾病诊治与预防国际科技合作基地（重庆400014）

收稿日期:2014-02-19 出版日期:2014-06-15 发布日期:2014-06-15

Clinical features and aCGH analysis of one child with Phelan-McDermid syndrome #br#

ZHANG Hongyun, WANG Xi

(Rehabilitation Department in Children’s Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China)

Received:2014-02-19 Published:2014-06-15 Online:2014-06-15

摘要/Abstract

摘要：

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。

Abstract: 　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-McDermid 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. Phelan-McDermid syndrome was diagnosed for this case. Conclusions Phelan-McDermid syndrome can be diagnosed by the typical 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.

张红运，王曦. Phelan-McDermid综合征临床及微阵列比较基因组杂交芯片技术分析[J]. 临床儿科杂志, 2014, 32(6): 579-582.

ZHANG Hongyun,WANG Xi
. Clinical features and aCGH analysis of one child with Phelan-McDermid syndrome #br#[J]. , 2014, 32(6): 579-582.

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