1. Short Telomere Syndromes in Clinical Practice: Bridging Bench and Bedside 
Abhishek A. Mangaonkar, MBBS, Mrinal M. Patnaik, MD 
Mayo Clinic Proceedings 
Volume 93, Issue 7, Pages (July 2018)
DOI: /j.mayocp
Copyright © 2018 Mayo Foundation for Medical Education and Research Terms and Conditions

2. Figure 1
Constituents of the human telomere complex and associated genetic anomalies. AA = aplastic anemia; DKC = dyskeratosis congenital; HHS = Hoyeraal-Hreidarsson syndrome; IPF = idiopathic pulmonary fibrosis. For expansion of gene symbols, use search tool at
Mayo Clinic Proceedings  , DOI: ( /j.mayocp )
Copyright © 2018 Mayo Foundation for Medical Education and Research Terms and Conditions

3. Figure 2
Flow cytometry–fluorescence in situ hybridization reports for a control subject and a patient with a suspected short telomere syndrome (STS). The color variations represent telomere length values that are >2 standard deviations away from the population mean. A, Control patient with telomere lengths in lymphocytes and granulocytes at the 50th percentile. B, A patient with telomere lengths less than the 1st percentile, highly suggestive for an STS.
Mayo Clinic Proceedings  , DOI: ( /j.mayocp )
Copyright © 2018 Mayo Foundation for Medical Education and Research Terms and Conditions

4. Figure 3
Summary of the various disorders associated with telomere shortening and steps in management. BMF = bone marrow failure; CAMT = congenital amegakaryocyctic thrombocytopenia; DKC = dyskeratosis congenita; flow-FISH = flow cytometry–fluorescence in situ hybridization; GI = gastrointestinal; ILD = interstitial lung disease; NCPF = noncirrhotic portal fibrosis; NRH = nodular regenerative hyperplasia. For expansion of gene symbols, use search tool at aFlow cytometry–FISH estimates telomere length and compares it with that of age-matched controls (telomere length is usually measured in leukocytes; however, it may be falsely low in patients after stem cell transplant or myeloid malignancy, in which case lymphocytes are preferred). bDKC is a multisystem disorder, and several less common clinical features, such as developmental delay, cerebellar defects, short stature, enteropathy, liver disease, osteoporosis, etc, are identified. cConsider genotyping for known telomere biology disorder genes.
Mayo Clinic Proceedings  , DOI: ( /j.mayocp )
Copyright © 2018 Mayo Foundation for Medical Education and Research Terms and Conditions