X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature
Pericentric inversions arise from double breaks on opposite arms of the chromosome, followed by 180° rotation and reintegration of the broken segment. Carriers of an inversion are mostly phenotypically healthy. However, they may have some clinical implications, including reproduction anomalies due t...
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Galenos Publishing House
2024-07-01
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| Series: | Gazi Medical Journal |
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| Online Access: | https://gazimedj.com/articles/x-chromosome-pericentric-inversion-report-of-a-case-with-46xinvxp112q26-and-a-mini-review-of-the-literature/doi/gmj.2023.3791 |
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| author | Emine Göktaş Betül Okur Altındaş Ayşe Gül Zamani Mahmut Selman Yıldırım |
| author_facet | Emine Göktaş Betül Okur Altındaş Ayşe Gül Zamani Mahmut Selman Yıldırım |
| author_sort | Emine Göktaş |
| collection | DOAJ |
| description | Pericentric inversions arise from double breaks on opposite arms of the chromosome, followed by 180° rotation and reintegration of the broken segment. Carriers of an inversion are mostly phenotypically healthy. However, they may have some clinical implications, including reproduction anomalies due to imbalanced gamete production. Here, we highlighted the phenotypical variability of X chromosome inversions by reporting a case. The female proband who had recurrent spontaneous abortions was admitted to the Medical Genetics polyclinic. After clinical evaluation, conventional Giemsa-banded karyotyping was performed. The result was 46,X,inv(X)(p11.2q26). Segregation analysis of the family members revealed that she inherited the pericentric inversion from her father and passed it on to her daughter. Detailed genetic counseling was provided to the family. The significance of X chromosome pericentric inversions in the literature was discussed with regard to their phenotypical relevance to enhance our understanding of clinical variability caused by chromosomal inversions. |
| format | Article |
| id | doaj-art-d0670299cfd847669e16ae1bc22da62b |
| institution | Kabale University |
| issn | 2147-2092 |
| language | English |
| publishDate | 2024-07-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Gazi Medical Journal |
| spelling | doaj-art-d0670299cfd847669e16ae1bc22da62b2025-01-17T06:44:14ZengGalenos Publishing HouseGazi Medical Journal2147-20922024-07-0135333834110.12996/gmj.2023.3791X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the LiteratureEmine Göktaş0https://orcid.org/0000-0002-3635-8763Betül Okur Altındaş1https://orcid.org/0000-0002-1754-4827Ayşe Gül Zamani2https://orcid.org/0000-0003-0329-9047Mahmut Selman Yıldırım3https://orcid.org/0000-0002-3986-5517Department of Medical Genetics Necmettin Erbakan University Faculty of Medicine, Konya, TürkiyeDepartment of Medical Genetics Necmettin Erbakan University Faculty of Medicine, Konya, TürkiyeDepartment of Medical Genetics Necmettin Erbakan University Faculty of Medicine, Konya, TürkiyeDepartment of Medical Genetics Necmettin Erbakan University Faculty of Medicine, Konya, TürkiyePericentric inversions arise from double breaks on opposite arms of the chromosome, followed by 180° rotation and reintegration of the broken segment. Carriers of an inversion are mostly phenotypically healthy. However, they may have some clinical implications, including reproduction anomalies due to imbalanced gamete production. Here, we highlighted the phenotypical variability of X chromosome inversions by reporting a case. The female proband who had recurrent spontaneous abortions was admitted to the Medical Genetics polyclinic. After clinical evaluation, conventional Giemsa-banded karyotyping was performed. The result was 46,X,inv(X)(p11.2q26). Segregation analysis of the family members revealed that she inherited the pericentric inversion from her father and passed it on to her daughter. Detailed genetic counseling was provided to the family. The significance of X chromosome pericentric inversions in the literature was discussed with regard to their phenotypical relevance to enhance our understanding of clinical variability caused by chromosomal inversions.https://gazimedj.com/articles/x-chromosome-pericentric-inversion-report-of-a-case-with-46xinvxp112q26-and-a-mini-review-of-the-literature/doi/gmj.2023.3791pericentric inversionsx chromosomehabitual abortuschromosome rearrangement |
| spellingShingle | Emine Göktaş Betül Okur Altındaş Ayşe Gül Zamani Mahmut Selman Yıldırım X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature Gazi Medical Journal pericentric inversions x chromosome habitual abortus chromosome rearrangement |
| title | X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature |
| title_full | X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature |
| title_fullStr | X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature |
| title_full_unstemmed | X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature |
| title_short | X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature |
| title_sort | x chromosome pericentric inversion report of a case with 46 x inv x p11 2q26 and a mini review of the literature |
| topic | pericentric inversions x chromosome habitual abortus chromosome rearrangement |
| url | https://gazimedj.com/articles/x-chromosome-pericentric-inversion-report-of-a-case-with-46xinvxp112q26-and-a-mini-review-of-the-literature/doi/gmj.2023.3791 |
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