| • | autosomal recessive; Ashkenzi Jews |
| • | triad: telangiectatic malar erythema, photosensitivity, dwarfism |
| • | telangiectatic malar erythema resembling LE develops in the first two years of life |
| • | defect – deficient ATP-dependent DNA-helicase |
| • | chromosome instability (increased sister chromatid exchange considered essential for diagnosis); ~1/4 under age 20 develop a malignancy |
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