Fig. 2

Identification and validation of 17p13.3 genomic rearrangement. a Array CGH results (GRCh37/hg19 build) showed copy number gain at the chromosome 17p13.3 locus. A large duplication was identified here and part of this region encompassing ABR1 and BHLHA9 manifested as triplication. The blue and the red dots denote amplification and deletion, respectively. The log ratio (Y axis) demonstrated by the blue dots indicated the presence of increased copies of this region. Ratios around + 0.5 and around + 1.0 indicate the presence of three and four copies of its corresponding region, respectively. b DNA copy numbers of 17p13.3 genomic rearrangement region detected by qPCR assays. Primers locations are indicated at the bottom of a (black bars). c DNA copy number of BHLHA9 detected by qPCR assays. All the normal subjects except III6 and III8 in this family show normal copy number (white bars). All the affected individuals show increased copy numbers (black bars). C1 and C2 are two normal non-familial individuals, which represent a male and a female respectively