Genetic analysis of two pediatric patients with Beckwith-Wiedemann syndrome.
- VernacularTitle:两例Beckwith-Wiedemann综合征的遗传学分析
- Author:
Xiaoying LI
1
;
Yuqiang LYU
;
Min GAO
;
Xiuli YAN
;
Chen MENG
;
Kaihui ZHANG
;
Yi LIU
;
Zhongtao GAI
Author Information
- Publication Type:Journal Article
- MeSH: Beckwith-Wiedemann Syndrome; genetics; Chromosomes, Human, Pair 11; DNA Methylation; Female; Genomic Imprinting; Humans; Infant; Infant, Newborn; Male; Multiplex Polymerase Chain Reaction
- From: Chinese Journal of Medical Genetics 2017;34(6):831-834
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic cause for two children with omphalocele.
METHODSThe patients were examined, and the medical history of their families was collected. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to detect potential mutation in the patients.
RESULTSLoss of methylation of imprinting center 2 (IC2) at the 11p15.5 region of the maternal chromosome was detected in both children.
CONCLUSIONThe two patients were diagnosed with Beckwith-Wiedemann syndrome by MS-MLPA. The loss of methylation of IC2 probably underlies the disease in both patients.
