CGH-array profile and COL6A2 gene allelic configuration. A). CGH-array profile of the COL6A2 intron 1A deletion and its schematic representation in the context of the entire COL6A2 gene. A custom track containing the maximum theoretical deleted region spanning 2094 bp (blue bar), derived from the closest normal probes (black bars), the two deleted probes (green bars) and PCR primers pairs (red bars), was created on UCSC Genome Browser. The two deleted probes lay at 1054 bp from exon 2. The region between the 5'-normal probe and the first-deleted probe is covered by repetitive elements (black bar at the bottom). The two probes identifying the deletion lye within unique sequences. B) Schematic representation of the COL6A2 gene allelic configuration in BM Patient 1, with the maternal allele (allele 1) carrying the 6-nucleotide deletion within exon 28 and the paternal allele (allele 2) carrying the intronic deletion within intron 1A.