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Updated: Aug 23, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
FSHD in Chinese population: characteristics of translocation and genotype-phenotype correlation
Zhi-Ying Wu1, Zhi-Qiang Wang, Shen-Xing Murong
1Department of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, People's Republic of China. zhiyingwu67@yahoo.com
Abstract:
Current studies of facioscapulohumeral muscular dystrophy (FSHD) are confined to the white population. The authors surveyed 110 healthy individuals and 27 families with FSHD including 55 patients and 74 relatives by pulsed-field gel electrophoresis. The authors report the characteristics of translocation and genotype-phenotype correlation, and their results indicate 4q to 10q translocation contributes to the occurrence of de novo mutation. This leads to a more severe phenotype in the Chinese population comparing to EcoRI allele sizes and the intersexual difference.
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