Please use this identifier to cite or link to this item:
|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 ?-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|
Files in This Item:
There are no files associated with this item.
Items in RIUdeG are protected by copyright, with all rights reserved, unless otherwise indicated.