X-AUTOSOME AND X-Y TRANSLOCATIONS IN FEMALE CARRIERS: X-CHROMOSOME INACTIVATION EASILY DETECTABLE BY 5-ethynyl-2-deoxyuridine (EdU)
Donat M1, Louis a2, Kreskowski K1, Ziegler M1, Weise a1, schreyer I1,3, Liehr t1,*
*Corresponding Author: Dr. thomas Liehr, Universtätsklinikum Jena, Institut für Humangenetik, am Klinikum 1, D-07747 Jena, Germany. tel: +49-3641-939-68-50. Fax. +49-3641-939-68-52. e-mail: thomas.Liehr@ med.uni-jena.de
page: 87
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Abstract

Here we report one new case each of an X-autosome translocation (maternally derived), and an X-Y-chromosome translocation. Besides characterizing the involved breakpoints and/or imbalances in detail by molecular cyto-genetics, also skewed X-chromosome inactivation was determined on single cell level using 5-ethynyl-2-deoxyuridine (EdU). Thus, we confirmed that the recently suggested edU approach can be simply adapted for routine diagnostic use. the latter is important, as only by knowing the real pattern of the skewed X-chromosome inactivation, correct interpretation of obtained results and subsequent reliable genetic counseling, can be done.



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