Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1

Turner syndrome is the complex human phenotype associated with complete or partial monosomy X. Principle features of Turner syndrome include short sta ture, ovarian failure, and a variety of other anatomic and physiological ab normalities, such as webbed neck, lymphedema, cardiovascular and renal anom alies, hypertension, and autoimmune thyroid disease, We studied 28 apparent ly nonmosaic subjects with partial deletions of Xp, in order to map loci re sponsible for various components of the Turner syndrome phenotype. Subjects were carefully evaluated for the presence or absence of Turner syndrome fe atures, and their deletions were mapped by FISH with a panel of Xp markers; Using a statistical method to examine genotype/phenotype correlations, we mapped one or more Turner syndrome traits to a critical region in Xp11.2-p2 2.1. These traits included short stature, ovarian failure, high-arched pala te, and autoimmune thyroid disease. The results are useful for genetic coun seling of individuals with partial monosomy X. Study of additional subjects should refine the localization of Turner syndrome loci and provide a ratio nal basis for exploration of candidate genes.