Balkan Journal of Medical Genetics

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

DISCUSSION

Up to now, female patients with derivative X-chromosomes due to X-autosome or X-Y translocation were not satisfactorily studied in routine molecular cytogenetic diagnostics (e.g., [11]). as BUdr studies were not really reproducible, many laboratories stopped doing them; e.g., in Germany no laboratory does them anymore. However, using the molecular genetic-based human androgen receptor (HUMar)-test [12], XCI cannot be studied at the single cell level; i.e., a skewed XCI can be detected but it can only be suggested which of the X-chromosomes is inactivated, the normal X-chromosome or the derivative one. Here, we present two cases by which the XCI could be followed-up nicely on the single cell level based on a combination of banding cytogenetics, molecular cytogenetics and the edU-test. the patterns were as to be expected in the two female patients showing no clinical symptoms (apart from infertility). Interestingly, female 1 suffers from Figure 2. the edU-test results are depicted for a normal female (a), a normal male (B), female 1 (C) and female 2 (D). X-Chromosomes are labeled in red by the centromeric probe for the X-chromosome (DXZ1). the inactive X-chromosomes are most intensely stained in green. infertility, even though for her mother this condition was not reported. thus, the observed translocation can be the reason for the unfulfilled wish for children, but it was not completely clarified if this was the case. Still, for females 1 and 2, unbalanced products of conception may result from the maternal translocations, which may hamper their overall fertility. Overall, the edU-test was easy to establish just following the protocol of sisdelli et al. [6] and can only be recommended to be used for complete clarification of similar cases. to the best of our knowledge, this is the first independent report confirming the excellent results of sisdelli et al. [6]; the test was established in our laboratory within only 2 weeks. Declaration of Interest. the authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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