Fig 1. Deletion at the chr15q13.1–13.3 locus in a language impaired proband.

(A) A snapshot from the UCSC Genome Browser (http://genome.ucsc.edu/; hg19) showing the genomic region encompassed by the chr15q13.1–13.3 deletion identified in a child with language impairment. The tracks at the bottom indicate the breakpoints previously mapped at this region (BP3; BP4 and BP5); the deletion predictions by QuantiSNP, PennCNV and by merging the two algorithms; and the location of the six amplicons used for validation. (B) qPCR results for the six amplicons in the proband’s family (colour coded bars indicate: father in green; mother in red; proband in blue and sibling in orange; the reference in grey). Approximately 50% reduction in copy number at amplicons 2–5 in the proband relative to reference and family members indicates a de novo deletion occurring at BP3-BP5.