Figure 2.

Heterozygous copy number loss of 3′MECOM as a result of an interstitial deletion in 3q26.2 in a neonate with syndromic BMF. (A) Chromosome 3 is shown, and detailed depiction of the affected area, demonstrating heterozygous 3q26.2 3′MECOM copy number loss (in red). SNP-array copy number profiling and analysis of regions of homozygosity were performed on DNA isolated from peripheral blood according to standard procedures using the Infinium Human CytoSNP-850K v1.1 BeadChip (Illumina, San Diego, CA, USA). Subsequently, visualizations of SNP-array results and data analysis were carried out using NxClinical software v3.0 (BioDiscovery, Los Angeles, CA, USA). Human genome build Feb. 2009 GRCh37/hg19 was used. Results were classified with BENCH Lab CNV software (Agilent, Santa Clara, CA, USA). (B) Schematic representation of the chromosome 3q26.2 MECOM region. The bar with whiskers represents the 854 kb deletion encompassing the EGFEM1P and EVI1 (partially) genes. Highlighted is the breakpoint at chromosomal position 167.962.667 upstream of the gene EGFEM1P and at chromosomal position 168.816.688 between exons 11 and 12 of MECOM (hg19/GRCh37) by captured sequencing (as described in¹⁰). Breakpoint sequence post-deletion is provided. Localization of the MECOM triple color FISH probe. Representation of EVI1 protein. Map not drawn to scale. Chr: chrosome; FISH: fluorescence in situ hybridization; ZF: zinc finger; BAF: B allele frequency.