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Title: Bloom syndrome in a Mexican Mestizo girl
Author: Rivera, H.
Garcia-Cruz, D.
Vaca, G.
Moller, M.
Ramos-Zepeda, R.
Cantu, J.M.
Issue Date: 1986
Abstract: A 3-year-old girl with Bloom syndrome is described. She exhibited stunted growth of prenatal onset and defective immunity, but the typical skin manifestations were absent. Cytogentic analysis revealed a 46,XX complement, 12.2 % of metaphases with at least a structural aberration, and a ten-fold increase in the sister-chromatid exchange rate. Leukocyte ?-glucuronidase activity was reduced to about 1/3; the significance of this finding is not clear. The present observation demonstrates the variable expression of the disorder probably dependent on ethnic and constitutional factors.
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