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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...

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Autores principales: Liehr, Thomas, Weise, Anja, Mrasek, Kristin, Ziegler, Monika, Padutsch, Niklas, Wilhelm, Kathleen, Al-Rikabi, Ahmed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868022/
https://www.ncbi.nlm.nih.gov/pubmed/31798640
http://dx.doi.org/10.3389/fgene.2019.01165
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author Liehr, Thomas
Weise, Anja
Mrasek, Kristin
Ziegler, Monika
Padutsch, Niklas
Wilhelm, Kathleen
Al-Rikabi, Ahmed
author_facet Liehr, Thomas
Weise, Anja
Mrasek, Kristin
Ziegler, Monika
Padutsch, Niklas
Wilhelm, Kathleen
Al-Rikabi, Ahmed
author_sort Liehr, Thomas
collection PubMed
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.
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spelling pubmed-68680222019-12-03 Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the Literature Liehr, Thomas Weise, Anja Mrasek, Kristin Ziegler, Monika Padutsch, Niklas Wilhelm, Kathleen Al-Rikabi, Ahmed Front Genet Genetics 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. Frontiers Media S.A. 2019-11-14 /pmc/articles/PMC6868022/ /pubmed/31798640 http://dx.doi.org/10.3389/fgene.2019.01165 Text en Copyright © 2019 Liehr, Weise, Mrasek, Ziegler, Padutsch, Wilhelm and Al-Rikabi http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Liehr, Thomas
Weise, Anja
Mrasek, Kristin
Ziegler, Monika
Padutsch, Niklas
Wilhelm, Kathleen
Al-Rikabi, Ahmed
Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the Literature
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 Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868022/
https://www.ncbi.nlm.nih.gov/pubmed/31798640
http://dx.doi.org/10.3389/fgene.2019.01165
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