Aarskog syndrome: full male and female expression associated with an X-autosome translocation

Abstract

We describe a male infant with the Aarskog syndrome and his equally prominently affected mother. The propositus and his mother have a balanced X-autosome translocation which originated in her. We postulate that the mother's translocation resulted in a presumed de novo point mutation for the Aarskog locus and that she has nonrandom inactivation of her structurally normal X. The full expression of the syndrome in the mother is compared to the partial expression in reported females. It is concluded that the Aarskog syndrome is an X-linked disorder and that the locus for the syndrome is at Xq13.