A clinical syndrome associated with dup(5p)

Abstract

Abstract We report two cases of dup(5p), both the consequence of an unbalanced segregation of a balanced translocation. Our cases and those previously published suggest that dup(5p) when involving at least a portion of band 5p13 results in a recognizable clinical syndrome of congenital malformations, mental retardation, and growth failure. Although the size of the trisomic segment is different, the patients have a similar phenotype.