Reconsideration of the cat eye syndrome: reciprocal translocation T [11,22] leading to partial trisomy of 11q and 22

We are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter to 22q11 :: 11q23 to 11qter in a child with multiple malformations whose mother has a balanced reciprocal translocation t [11,22] with a history of two previous abortions. We emphasize the importance of family study in such cases