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X-autosome and X-Y translocations in female carriers: X-chromosome inactivation easily detectable by 5-ethynyl-2-deoxyuridine (EdU) Cover

X-autosome and X-Y translocations in female carriers: X-chromosome inactivation easily detectable by 5-ethynyl-2-deoxyuridine (EdU)

Balkan Journal of Medical Genetics
Volume 20 (2017): Issue 1 (June 2017)
By: M Donat,  A Louis,  K Kreskowski,  M Ziegler,  A Weise,  I Schreyer and  T Liehr  
Open Access
|Jun 2017

Figures & Tables

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.
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.
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.
DOI: https://doi.org/10.1515/bjmg-2017-0012 | Journal eISSN: 2199-5761
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Language: English
Page range: 87 - 90
Published on: Jun 30, 2017
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
5-ethynyl-2-deoxyuridine (EdU),
Genetic counseling,
Molecular cytogenetics,
skewed X-chromosome inactivation,
X-Autosome translocation,
X-Y-Chromosome translocation
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2017 M Donat, A Louis, K Kreskowski, M Ziegler, A Weise, I Schreyer, T Liehr, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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