Annales de genetique · 1986
Coincidence of familial systemic lupus erythematosus and the fragile X syndrome.
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Belghiti D, Razavi-Encha F, Raoul O, Hirbec G, Guillot F, Reinert P, Sobel A
Аннотация
The coincidence of fragile X syndrome (fra(X] and systemic lupus erythematosus (SLE) in the same family is reported here for the first time. A 16-year-old boy with typical fra(X) had a severe SLE with multiple organ involvement. His 12-year-old sister of normal intelligence had circulating antinuclear antibodies and proliferative glomerulonephritis. The fra(X) was not found in her karyotype. Except for abnormalities due to immunosuppressive treatment during pregnancy, the association of SLE and chromosome abnormalities has been only reported in Klinefelter's syndrome. The possible pathogenic role of sex hormonal abnormalities due to an extra X chromosome has been suggested in the occurrence of SLE.