Familial t (4;21)(q2.4;q2.2) leading to unbalanced offspring with partial duplication of 4q and of 21q without manifestations of the down syndrome

Abstract
We report on an infant with a malformation syndrome who had a combination of partial duplication of 4q and 21q as the result of a maternal unbalanced translocation. She has duplication of the proximal portion of chromosome 21, without manifestation of the Down syndrome.