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|Title:||Bloom syndrome in a Mexican Mestizo girl|
|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 β-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.|
|Appears in Collections:||Producción científica UdeG (prueba)|
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