45,X/46,X,idic(Yq) mosaicism: Clinical, cytogenetic, and molecular studies in four individuals

Abstract

45,X/46,X,idic(Yq) mosaicism is associated with a variety of sex phenotypes, including Ullrich-Turner syndrome (UTS), intersexuality, and complete male. It remains unclear whether the phenotypic variability results from a dilutional effect by the 45,X cell line in the primordial gonad or an abnormality of the SRY gene (SRY). We conducted cytogenetic and molecular studies on four patients with such mosaicism, two of whom had a complete male phenotype and two who had UTS. Chromosome analyses showed that the frequency of cells carrying an idic(Yq) chromosome in peripheral blood lymphocytes and skin fibroblasts was not related to the given sex phenotype. The SRY, PABY, and ZFY genes were present in all four patients. A fluorescence in situ hybridization (FISH) study showed that both a patient with a complete male phenotype and another with UTS had duplicate copies of SRY in their idic(Yq) chromosomes, whereas a patient with UTS had a single copy of the gene. These findings suggested that the coexisting 45,X cell line is more influential on the determination of the sex phenotype in individuals with 45,X/ 46,X,idic(Yq) mosaicism.