Figure 4.
Telomere lengths in cases 1 and 2. Depicted are lymphocyte telomere length by fluorescent in situ hybridization and flow cytometry (flow FISH) of 3 patients with TERC-associated TBD. The green circle shows lymphocyte telomere length of a 36-year-old male with liver disease and bone marrow failure (case 1). Yellow diamonds indicate 2 lymphocyte TL taken over time in a female patient with pulmonary fibrosis and bone marrow failure (case 2). Orange circles show lymphocyte TL of the child of patient 2 who presented with thrombocytopenia and dysplastic fingernails and was found to carry the same TERC variant as their mother.