Figure 1.

Clinical Features of the Individuals

(A) Bone-marrow smears from individual 1 (top) and individual 2 (bottom) show selective erythroid hypoplasia.

(B) Growth curves of individual 1 (red) and individual 2 (green) exhibit marked growth retardation.

(C) Reticular skin pigmentation and severe microcephaly as demonstrated by magnetic resonance imaging noted in individual 1 at 16 years of age.

(D) Telomere lengths in peripheral blood lymphocytes from individual 1 (red) and individual 2 (green) compared to normal individuals (gray) (median age, 29 years; range, 1–47 years) and an individual with DC (blue); telomere lengths were estimated by flow-cytometry fluorescent in situ hybridization (flow-FISH) and expressed as the FISH signals relative to the signal from a normal control (1301 cell line).