Skip to main content
. Author manuscript; available in PMC: 2017 Nov 10.
Published in final edited form as: Leukemia. 2017 May 10;31(8):1827–1830. doi: 10.1038/leu.2017.142

Figure 1. Diagnostic work up of 3 siblings with MDS and monosomy 7.

Figure 1

A.) Bone marrow core biopsy and aspirate (inset) showing dysplastic megakaryocytes in Sibling 1. B.) Copy number analysis demonstrating monosomy 7 in myeloid cells all three siblings. C.) Smoothed color density plots of chromosome 7 B-allele frequency (BAF) of lymphocyte (normal) and myeloid (tumor) DNA in Sibling 3 showing a subclonal population with allelic imbalance, despite the lack of a copy number change, consistent with CN-LOH in the lymphocytes. Darker blue signifies a higher data point (SNP alternative allele frequencies) density. Red vertical line indicates genomic location of SAMD9 and SAMD9L.