Figure 4
Figure 4. Telomere lengths in families 8 and 23. (A) Lymphocyte telomere lengths in family 8 measured by flow-FISH. (i) Father of the index, asymptomatic with TERC variant r.448A>G; (ii) mother of the index, asymptomatic, wild type for TERC; (iii) index case with TERC variant r.448A>G; (iv) sister of the index, affected, wild type for TERC. Curved lines represent 99th, 90th, 50th, 10th, and first percentiles. (B) Telomere lengths of family 23 measured by MM-qPCR. Telomere lengths are expressed as a T:S ratio for the index case, his mother (heterozygous for TERT variant) and his brother (wild type for TERT). These are compared with 99 normal controls (as in Figure 2A). Percentiles for the normal controls are indicated. All samples were normalized to a reference.

Telomere lengths in families 8 and 23. (A) Lymphocyte telomere lengths in family 8 measured by flow-FISH. (i) Father of the index, asymptomatic with TERC variant r.448A>G; (ii) mother of the index, asymptomatic, wild type for TERC; (iii) index case with TERC variant r.448A>G; (iv) sister of the index, affected, wild type for TERC. Curved lines represent 99th, 90th, 50th, 10th, and first percentiles. (B) Telomere lengths of family 23 measured by MM-qPCR. Telomere lengths are expressed as a T:S ratio for the index case, his mother (heterozygous for TERT variant) and his brother (wild type for TERT). These are compared with 99 normal controls (as in Figure 2A). Percentiles for the normal controls are indicated. All samples were normalized to a reference.

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