† These authors contributed equally.
Background: Duchenne muscular dystrophy (DMD) is major childhood
muscular dystrophy. Pre-implantation genetic testing (PGT) is an alternative to
prenatal diagnosis. This study performed SNP microarray with karyomapping PGT of
DMD in comparison to PCR-based techniques for validation. Methods: Two
families at risk of having DMD offspring decided to have karyomapping PGT. PCR
protocol using mini-sequencing and intragenic microsatellites-based linkage
analysis was developed and applied. Results: Karyotyping results of
family DA (DMD c.895G
