Article
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.
Molecular genetics and metabolism - 1 Sept 2016
Lin Hsiang-Yu, Chuang Chih-Kuang, Tu Ru-Yi, Fang Yi-Ya, Su Yi-Ning, Chen Chih-Ping, Chang Chia-Ying, Liu Hsi-Che, Chu Tzu-Hung, Niu Dau-Ming, Lin Shuan-Pei
Abstract excerpt
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder predisposing to tumorigenesis that results from abnormal expression or function of imprinted genes of chromosome 11p15.5. METHODS: Forty-seven patients in Taiwan with clinical suspicion of BWS were referred for diagnostic testing based on methylation profiling of H19-associated imprinting center (IC) 1 and KCNQ1OT1-associated IC2...
Topics
- Adolescent
- Adult
- Beckwith-Wiedemann Syndrome
- Child
- Child, Preschool
- Cyclin-Dependent Kinase Inhibitor p57
- DNA Methylation
- Epigenesis, Genetic
- Female
- Genomic Imprinting