PARENTAL ORIGIN OF THE X-CHROMOSOME, X-CHROMOSOME MOSAICISM AND SCREENING FOR HIDDEN Y-CHROMOSOME IN 45,X TURNER SYNDROME ASCERTAINED CYTOGENETICALLY

Our study confirms the finding that about 85% of X chromosomes in Turner girls are maternally derived. A new observation is the detection of a high frequency of mosaicism (15%) in Turner girls who by cytogenetic analysis were thought to have a pure 45,X karyotype. DNA examination of the material was done by hybridization with digoxigenin labelled, nonradioactive probes, and PCR products for microsatellite analysis were run on polyacrylamide gels. We screened for the presence of ''hidden'' Y chromosome mosaicism, using the primers SRY, ZFY, DYZ3, DYZ1 and DYS132. Contrary to other reports using the PCR technique to unravel ''hidden'' Y chromosome mosaics, we did not find any positive cases, A precise technical protocol for these new techniques is given, and the advantages are discussed.