ABSTRACT

Anomalies of the X and Y chromosomes form a significant part of the total load of chromosome mutations carried by the human species (1-3). Fortunately, most sex chromosome aberrations (SCA) lead to fewer developmental disabilities than autosomal aneuploidy. Follow up of children identified with SCA in several consecutive newborn studies worldwide has revealed that, when identified as newborn infants and followed through to late adolescence, most children are not dysmorphic nor do they suffer from major developmental disabilities (4,5).