MECP 2 duplication syndrome：a pedigree report and literature review
10.3969/j.issn.1000-3606.2016.12.005
- VernacularTitle:甲基化CpG结合蛋白2基因重复综合征1家系报告并文献复习
- Author:
Min ZHU
;
Yue ZHANG
;
Jian TANG
;
Senjie DU
;
Dalin FU
;
Xiaoke ZHAO
;
Hongying LI
;
Li ZHANG
- Keywords:
MECP2 duplication syndrome;
gene mutation;
development retardation
- From:
Journal of Clinical Pediatrics
2016;34(12):898-902
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical features and the gene mutations in MECP 2 duplication syndrome. Methods The clinical data of a child with developmental retardation and hypophrenia accompanied with respiratory tract infection was analyzed retrospectively. Microarray analysis technique was used to detect the genes in the patient and his family. The pertinent literature was reviewed. Results A 1-year and 7-month old boy was found to have hypotonia, developmental delay, and recurrent respiratory tract infections after birth. Microarray analysis showed a duplication of 441.88kb in Xq28 area and diagnosis of MECP2 duplication syndrome was confirmed. His grandmother, mother, and two aunts were found duplication of 441.73-441.88kb in Xq28 area, all of whom were MECP2’s female carrier. Conclusions The improvement of chromosome chip technology inspection is helpful to the early diagnosis of MECP2 duplication syndrome.
