Variable X chromosomal abnormalities in patients with stigmata of Turner syndrome.

Four cases with suspected sex chromosomal abnormalities and clinical features and endocrine data typical of Turner syndrome are presented. Chromosome preparations made from skin fibroblasts and peripheral blood and multiple banding techniques employed to map the genes of their X chromosomes showed variable results. A review of the literature also revealed conflicting findings regarding the mapping of genes on the X chromosome. Despite different cytogenetic findings, the clinical features of the four cases presented were quite similar.