Association of Red Cell Spherocytosis With Deletion of the Short Arm of Chromosome

نویسندگان

  • Robert R. Chilcote
  • Michelle M. Le Beau
  • Carlton Dampier
  • Eugene Pergament
  • Yury Verlinsky
  • Narla Mohandas
  • Henri Frischer
  • Janet D. Rowley
چکیده

Congenital spherocytic anemia is a common disorder. but in most cases the nature of the underlying membrane lesion is unknown and the genetic defect has not yet been unequivocally mapped to a chromosome. We studied two dysmorphic siblings with neurologic findings and hemolytic anemia. Clinical and laboratory findings in these two siblings were consistent with the diagnosis of congenital spherocytosis whereas both parents and two unaffected

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تاریخ انتشار 2005