Parental origin of the X chromosome, X chromosome mosaicism and screening for "hidden" Y chromosome in 45,X Turner syndrome ascertained cytogenetically |
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| Authors: | Torben Larsen,Claus Hø jbjerg Gravholt,Annette Tillebeck,Hanne Larsen,Marianne Bryder Jensen,Johannes Nielsen,Ursula Friedrich |
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| Affiliation: | Cytogenetic Laboratory, Aarhus Psychiatric Hospital, Risskov;Medical Department M (Endocrinology and Diabetes), Aarhus County Hospital, University Hospital of Aarhus;Institute of Human Genetics, The Bartholin Building, Aarhus University, Aarhus, Denmark |
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| Abstract: | 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, non-radioactive 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. |
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| Keywords: | gonadoblastoma non-radioactive Southern blotting Turner syndrome X chromosome Y chromosome |
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