Body measurements of patients with streak gonads and their bearing upon the karyotype

Abstract

Anthropometric and cytogenetic investigations were carried out in 32 patients with streak gonads. The physique of the patients was delineated according to their chromosomal complements. For the possible localization of the determinants of the X chromosome for the physique the following conclusions were drawn. For normal height both the short and the long arm of the X chromosome are essential. The short arm of the X chromosome contains determinants that, if deleted, result in a high weight-to-height ratio, i.e., proportionally heavier weight. The weight-to-height ratio is also shifted to the left in deleted Xq cases, but to a lesser extent. Determinants are present in both the short and the long arms of the X chromosomes, which are involved in the proportional development of the ratio of the limbs to trunk. In all deleted-X cases the limbs were shorter. Duplication of the long arm of the X chromosome does not compensate for loss of the short arm.