Figure 1.
Heterozygous deletion encompassing GATA2 in a subject with primary MDS and lacking additional features of GATA2 deficiency. Array comparative genomic hybridization of fibroblast DNA (courtesy of Baylor Medical Genetics Laboratories), demonstrating the 3.1- to 3.3-Mb deletion encompassing GATA2 identified in BMF52. The GRCh37/hg19 genomic location of GATA2 is chromosome 3, nucleotides 128198265 through 128212030. Red dots represent copy number losses, green dots represent copy number gains, and orange dots represent known polymorphisms. A subset of additional genes within the deleted segment is shown.