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

RESULTS

two infertile females were studied by banding cytogenetics; in female 1, molecular cytogenetics could confirm the karyotype as 46,X,t(X;18)(q22.3;p11.2)mat (Figure 1a). In female 2, a complex karyotype was determined by banding cytogenetics and FIsH as mos 46,X,der(X) t(X;Y)(p22.3;q11.22)[71]/45,X[8]/45,der(X)t(X;Y) (p22.3;q11.22)[3]/47,XX,+der(X)t(X;Y)(p22.3;q11.22) [2]/47,X,der(X)t(X;Y)(p22.3;q11.22),+der(X)t(X;Y) (p22.3;q11.22)[1]/46,der(X)t(X;Y)(p22.3;q11.22),+der(X) t(X;Y)(p22.3;q11.22)[1] (Figure 1B). results of a normal female and male after edU-experiments are shown in Figures 2a and 2B. the edU-test revealed that in female 1 (and her mother, results not shown) all 25 studied cells showed a skewed X-inactivation; i.e., in all cells only the normal X-chromosome was inactivated (Figure 2C). In female 2, all studied cells had an inactive derivative X-chromosome (Figure 2D), here only cells with a karyotype 46,X,der(X)t(X;Y)(p22.3;q11.22) were taken into account.

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