Clinical features and aCGH analysis of one child with Phelan-McDermid syndrome / 临床儿科杂志
Journal of Clinical Pediatrics
;
(12): 579-582, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-452253
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Journal of Clinical Pediatrics
Year:
2014
Type:
Article
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