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

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

Here we report one new case each of an X-autosome translocation (maternally derived), and an X-Y-chromosome translocation. Besides characterizing the involved breakpoints and/or imbalances in detail by molecular cyto-genetics, also skewed X-chromosome inactivation was determined on single cell level...

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Bibliographic Details
Main Authors: Donat M, Louis A, Kreskowski K, Ziegler M, Weise A, Schreyer I, Liehr T
Format: Article
Language:English
Published: Sciendo 2017-06-01
Series:Balkan Journal of Medical Genetics
Subjects:
5-ethynyl-2-deoxyuridine (edu)
genetic counseling
molecular cytogenetics
skewed x-chromosome inactivation
x-autosome translocation
x-y-chromosome translocation
Online Access:https://doi.org/10.1515/bjmg-2017-0012

Internet

https://doi.org/10.1515/bjmg-2017-0012

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