Rearrangements involving four chromosomes in a child with congenital abnormalities

Abstract

This report describes a complex structural rearrangement between chromosomes X and 1 and a 7;13 translocation (together involving six break points) in a child with multiple congenital defects. Both parents showed a normal chromosome complement, suggesting that the changes may have originated either in a gametic nucleus or at a very early stage of zygotic development.