Clinical features and aCGH analysis of one child with Phelan-McDermid syndrome
10.3969/j.issn.1000-3606.2014.06.020
- VernacularTitle:Phelan-McDermid综合征临床及微阵列比较基因组杂交芯片技术分析
- Author:
Hongyun ZHANG
;
Xi WANG
- Publication Type:Journal Article
- Keywords:
Phelan-McDermid syndrome;
chromosome;
array CGH
- From:
Journal of Clinical Pediatrics
2014;(6):579-582
- CountryChina
- Language:Chinese
-
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-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.
