Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization

Duchenne muscular dystrophy (DMD, OMIM#310200) is a severe neuromuscular disorder caused by mutations in the dystrophin gene; it has a prevalence of 1 in 3500 live males (1–2). Due to the enormous size of this gene, and to allele heterogeneity, molecular diagnosis of DMD requires a great deal of effort. While multiplex ligation-dependent probe amplification (MLPA) represents the standard molecular technique for detecting exonic DMD gene rearrangements (3), several comparative genomic hybridization (CGH) platforms have recently been reported to rapidly screen the entire DMD gene, as well as neighboring sequences, for deletions and duplications (4–6).