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Journals
Balkan Journal of Medical Genetics
Volume 20 (2017): Issue 1 (June 2017)
Open Access
X-autosome and X-Y translocations in female carriers: X-chromosome inactivation easily detectable by 5-ethynyl-2-deoxyuridine (EdU)
M Donat
M Donat
,
A Louis
A Louis
,
K Kreskowski
K Kreskowski
,
M Ziegler
M Ziegler
,
A Weise
A Weise
,
I Schreyer
I Schreyer
and
T Liehr
T Liehr
| Jun 30, 2017
Balkan Journal of Medical Genetics
Volume 20 (2017): Issue 1 (June 2017)
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Article Category:
Case Report
Published Online:
Jun 30, 2017
Page range:
87 - 90
DOI:
https://doi.org/10.1515/bjmg-2017-0012
Keywords
5-ethynyl-2-deoxyuridine (EdU)
,
Genetic counseling
,
Molecular cytogenetics
,
skewed X-chromosome inactivation
,
X-Autosome translocation
,
X-Y-Chromosome translocation
© 2017 Donat M, Louis A, Kreskowski K, Ziegler M, Weise A, Schreyer I, Liehr T
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Figure 1
Results of molecular cytogenetic analyses for the case with X-autosome translocation (female 1) (A) and X-Y-translocation (female 2) (B) in females. Multicolor banding using a probe for the X-chromosome (MCBX) confirmed the break in Xq22.3; probes for the short arm of chromosome 18 (pcp18) together with a cen-tromeric probe for chromosome 18 (D18Z1) and inverted DAPI-banding mapped the breakpoint into subband 18p11.2. The break in the derivative X-chromosome could be mapped between the probe KAL1 and the subtelomeric probe, and for the Y-chromosome-part in Yq11.22 proximal to probes RP11-943F15.
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.