West Syndrome Associated with A Novel Chromosomal Anomaly; Partial Trisomy 8P Together with Partial Monosomy 9P, Resulting from A Familial Unbalanced Reciprocal Translocation

Abstract

West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/ developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/ developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient carrying a derivative chromosome originating from the reciprocal unbalanced translocation t (8;9) (p11.2;p22) and presenting with macrocephaly, West syndrome, severe mental motor retardation and hypotonia. As far as we know, this is a new chromosomal anomaly associated with West syndrome.