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[Genetic analysis of two pediatric patients with Beckwith-Wiedemann syndrome]
Xiaoying Li1, Yuqiang Lyu, Min Gao
1Neonatal Department, Institute of Pediatric Research, Department of Respiratory Intervention, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Objective:
To explore the genetic cause for two children with omphalocele.
Methods:
The 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.
Results:
Loss of methylation of imprinting center 2 (IC2) at the 11p15.5 region of the maternal chromosome was detected in both children.
Conclusion:
The two patients were diagnosed with Beckwith-Wiedemann syndrome by MS-MLPA. The loss of methylation of IC2 probably underlies the disease in both patients.
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