“Cri du chat” syndrome with maternal insertional translocation

An insertional tramlocation 46, XX, ins (17;5) (q21;p14pter) is described in the mother of a child with “cri du chat” syndrome, 46, XY,5p-. The phenotypically normal sister of the propositus is also a carrier of the balanced translocation. The mother's parents have a normal Itaryotype.