Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping.

Yuting ZhengLingrong KongHui XuYongjie LuXuechao ZhaoYuxia YangGuoliang YuPidong LiFan LiangHongshuai JinXiangdong Kong

Published in: Prenatal diagnosis (2019)

Bianano optical mapping can determine the number of D4Z4 repeats and exclude interference of the 10q26.3 homologous region, and in combination with karyomapping, can be used for rapid and accurate prenatal diagnosis of FSHD1.

Keyphrases

muscular dystrophy
high resolution
duchenne muscular dystrophy
loop mediated isothermal amplification
high speed
mass spectrometry
dna damage
dna repair
high density