Figure 1.

Scheme of chromosomal deletions of 11q23.3-qter in Jacobsen syndrome. Black lines indicate patients with pancytopenia, blue lines indicate patients with anemia and thrombocytopenia, and red lines indicate patients with thrombocytopenia. The deletion regions were identified via whole genome sequencing (WGS) in the 4 patients in our cohort (cases 1–4) and via comparative genomic hybridization array (*) in 5 patients from our literature review (cases 6, 7, 10, 11, and 13). Genes within chromosomal deletion regions are shown on a screenshot of the UCSC genome browser (http://genome.ucsc.edu; accessed on May 4, 2023). Chr: chromosome; tRNA: transfer RNA.