The XXXXY sex chromosome abnormality.

Abstract
A 14-yr. old phenotypical male with small genitalia, long slender extremities, prognathism, and clubbed large toes is described. The buccal mucosa cells showed 1, 2, and 3 sex chromatin bodies, and the chromosomal count was 49, with the karyotype XXXXY and without evidence of mosaicism. The clinical symptomatology and genesis of this sex chromosome anomaly are discussed.