Unexpected discovery of syndromic epilepsy during the genetic
exploration of a case of leukemia.
AbstractA three-year-old girl with a history of epilepsy seizures was diagnosed
with acute lymphoblastic leukemia. A comprehensive genetic study of
blast cells led to the discovery of a constitutional deletion of the
PCDH19 gene. This description underlines how modern techniques of
molecular investigations in hematological disorders may lead to