Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the Literature
A balanced pericentric inversion is normally without any clinical consequences for its carrier. However, there is a well-known risk of such inversions to lead to unbalanced offspring. Inversion-loop formation is the mechanism which may lead to duplication or deletion of the entire or parts of the in...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2019-11-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2019.01165/full |
| _version_ | 1828529936569204736 |
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| author | Thomas Liehr Anja Weise Kristin Mrasek Monika Ziegler Niklas Padutsch Kathleen Wilhelm Ahmed Al-Rikabi |
| author_facet | Thomas Liehr Anja Weise Kristin Mrasek Monika Ziegler Niklas Padutsch Kathleen Wilhelm Ahmed Al-Rikabi |
| author_sort | Thomas Liehr |
| collection | DOAJ |
| description | A balanced pericentric inversion is normally without any clinical consequences for its carrier. However, there is a well-known risk of such inversions to lead to unbalanced offspring. Inversion-loop formation is the mechanism which may lead to duplication or deletion of the entire or parts of the inverted segment in the offspring. However, also partial deletion and duplication may be an effect of a parental inversion, depending on the size of the inversion and the uneven number of crossing over events, also suggested to be due to an inversion loop. Here we describe two new cases of recombinant chromosomes and provide a review of the literature of comparable cases. Interestingly, this survey confirmed the general genetic principle that gain of copy numbers are better tolerated than losses. Furthermore, there is a non-random distribution of all human chromosomes concerning their involvement in recombinant formation, which is also discussed. |
| first_indexed | 2024-12-11T22:16:01Z |
| format | Article |
| id | doaj.art-10a5cf74b6434e68a22d746fb7ba199a |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-11T22:16:01Z |
| publishDate | 2019-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-10a5cf74b6434e68a22d746fb7ba199a2022-12-22T00:48:36ZengFrontiers Media S.A.Frontiers in Genetics1664-80212019-11-011010.3389/fgene.2019.01165491354Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the LiteratureThomas LiehrAnja WeiseKristin MrasekMonika ZieglerNiklas PadutschKathleen WilhelmAhmed Al-RikabiA balanced pericentric inversion is normally without any clinical consequences for its carrier. However, there is a well-known risk of such inversions to lead to unbalanced offspring. Inversion-loop formation is the mechanism which may lead to duplication or deletion of the entire or parts of the inverted segment in the offspring. However, also partial deletion and duplication may be an effect of a parental inversion, depending on the size of the inversion and the uneven number of crossing over events, also suggested to be due to an inversion loop. Here we describe two new cases of recombinant chromosomes and provide a review of the literature of comparable cases. Interestingly, this survey confirmed the general genetic principle that gain of copy numbers are better tolerated than losses. Furthermore, there is a non-random distribution of all human chromosomes concerning their involvement in recombinant formation, which is also discussed.https://www.frontiersin.org/article/10.3389/fgene.2019.01165/fullbalanced pericentric inversionrecombinant chromosomesdosage sensitive genesduplicationdeletion |
| spellingShingle | Thomas Liehr Anja Weise Kristin Mrasek Monika Ziegler Niklas Padutsch Kathleen Wilhelm Ahmed Al-Rikabi Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the Literature Frontiers in Genetics balanced pericentric inversion recombinant chromosomes dosage sensitive genes duplication deletion |
| title | Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the Literature |
| title_full | Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the Literature |
| title_fullStr | Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the Literature |
| title_full_unstemmed | Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the Literature |
| title_short | Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the Literature |
| title_sort | recombinant chromosomes resulting from parental pericentric inversions two new cases and a review of the literature |
| topic | balanced pericentric inversion recombinant chromosomes dosage sensitive genes duplication deletion |
| url | https://www.frontiersin.org/article/10.3389/fgene.2019.01165/full |
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