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

M Donat

M Donat

Universtätsklinikum Jena, Institut für HumangenetikJena, Germany
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Donat, M
, 
A Louis

A Louis

Labor für Humangenetische DiagnostikHeidelberg, Germany
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Louis, A
, 
K Kreskowski

K Kreskowski

Universtätsklinikum Jena, Institut für HumangenetikJena, Germany
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Kreskowski, K
, 
M Ziegler

M Ziegler

Universtätsklinikum Jena, Institut für HumangenetikJena, Germany
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Ziegler, M
, 
A Weise

A Weise

Universtätsklinikum Jena, Institut für HumangenetikJena, Germany
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Weise, A
, 
I Schreyer

I Schreyer

  • Universtätsklinikum Jena, Institut für HumangenetikJena, Germany
  • Jena University Hospital, Center for Ambulant MedicineJena, Germany
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Schreyer, I
 et 
T Liehr

T Liehr

Universtätsklinikum Jena, Institut für HumangenetikJena, Germany
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Liehr, T
  
30 juin 2017
X-autosome and X-Y translocations in female carriers: X-chromosome inactivation easily detectable by 5-ethynyl-2-deoxyuridine (EdU)'s Cover Image
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Catégorie d'article: Case Report
Publié en ligne: 30 juin 2017
Pages: 87 - 90
DOI: https://doi.org/10.1515/bjmg-2017-0012
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© 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.
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.
Langue:
Anglais
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Médecine, Sciences médicales de base, Sciences médicales de base, autres
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