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Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy) Cover

Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)

Balkan Journal of Medical Genetics
Volume 26 (2023): Issue 1 (July 2023)
By: H. Cobanogullari,  N. Akcan and  M.C. Ergoren  
Open Access
|Jul 2023

Figures & Tables

Figure 1:

Giemsa banding showed a karyotype of 45,X from peripheral blood lymphocytes (a) and a karyotype of 46,XY from the epithelial cells of the oral mucosa (b).
Giemsa banding showed a karyotype of 45,X from peripheral blood lymphocytes (a) and a karyotype of 46,XY from the epithelial cells of the oral mucosa (b).

Figure 2:

Pedigree of the family in this case study. No numerical and/or structural anomalies were observed in the karyotypes of parents and siblings.
Pedigree of the family in this case study. No numerical and/or structural anomalies were observed in the karyotypes of parents and siblings.

Figure 3:

Application of -FISH to confirm the presence of Y chromosome. SRY gene duplication on Y chromosome was analyzed by FISH. A positive SRY signal shown by the red light is found at the terminal Y p-arm. The centromere of the X chromosome is shown by the green light.
Application of -FISH to confirm the presence of Y chromosome. SRY gene duplication on Y chromosome was analyzed by FISH. A positive SRY signal shown by the red light is found at the terminal Y p-arm. The centromere of the X chromosome is shown by the green light.
DOI: https://doi.org/10.2478/bjmg-2023-0007 | Journal eISSN: 2199-5761
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Language: English
Page range: 57 - 62
Published on: Jul 31, 2023
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Mixed gonadal dysgenesis,
mosaicism,
noninvasive prenetal testing,
prenatal diagnosis,
Turner syndrome
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2023 H. Cobanogullari, N. Akcan, M.C. Ergoren, 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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