Prevalence and cancer phenotypes in patients with germline defects in telomere maintenance. (A) Telogram of lymphocyte telomere lengths of 176 short telomere syndrome patients relative to a nomogram of healthy controls with percentile lines labeled on the right. The mutant gene for each subject is color coded and the key is shown above the chart. Four patients included in this study were deceased prior to telomere-length measurement. (B) Telogram showing the patients with noncutaneous cancer diagnoses within the Johns Hopkins cohort of 176 patients in this study denoted in red; individuals without cancer are denoted in gray. One MDS/AML patient (among 23 with cancer) is not shown because of missing telomere-length data as explained in panel A. (C) Distribution of the 24 cancer types identified in 23 patients. (D) Telogram showing solid tumor and MDS/AML cancers by age and sex. The squares refer to male subjects and circles to female subects. DKC1 mutation carriers are annotated to show their young-onset disease and predilection to solid tumors.