No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45, XO Turner syndrome.
Why the frequency of spontaneous abortions among monosomy X conceptuses is 98% while the postnatal course of Turner syndrome is relatively benign has not been understood. One explanation could be that mosaicism for a euploid cell line confers viability and that those 2% of 45,XO zygotes surviving in utero have some degree of mosaicism. We thus reasoned that if the non-mosaic 45,XO karyotype is lethal, a thorough study of living Turner syndrome patients might reveal a much higher frequency of mosaicism than the 30--40% reported. Ten adult women with a 45,XO leukocyte karyotype were investigated, looking at five tissue types from all three germ layers: buccal mucosa and hair from ectoderm, urinary epithelium from endoderm and ectoderm, and lymphocytes and skin fibroblasts from mesoderm. We were unable to confirm mosaicism in these patients, although in 2 out of 10 there was the suggestion of a small percentage of euploid cells in skin and blood karyotypes.
D000022:Abortion, Spontaneous / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D009030:Mosaicism; D011247:Pregnancy; D012728:Sex Chromatin / Q000648:ultrastructure; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome