
A novel 47.2 Mb duplication on chromosomal bands Xq21.1–25 associated with mental retardation
Keywords: CNV, copy number variation; MR, mental retardation; aCGH, array comparative genomic hybridization; Mb, megabase; NMD, nonsense-mediated mRNA decay; OMIM, Online Mendelian Inheritance in Man; RT-PCR, reverse transcription polymerase chain reaction; XLMR, X