Cargando…
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...
Autores principales: | , , , , , , |
---|---|
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 |
_version_ | 1783472175753199616 |
---|---|
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. |
format | Online Article Text |
id | pubmed-6868022 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT liehrthomas recombinantchromosomesresultingfromparentalpericentricinversionstwonewcasesandareviewoftheliterature AT weiseanja recombinantchromosomesresultingfromparentalpericentricinversionstwonewcasesandareviewoftheliterature AT mrasekkristin recombinantchromosomesresultingfromparentalpericentricinversionstwonewcasesandareviewoftheliterature AT zieglermonika recombinantchromosomesresultingfromparentalpericentricinversionstwonewcasesandareviewoftheliterature AT padutschniklas recombinantchromosomesresultingfromparentalpericentricinversionstwonewcasesandareviewoftheliterature AT wilhelmkathleen recombinantchromosomesresultingfromparentalpericentricinversionstwonewcasesandareviewoftheliterature AT alrikabiahmed recombinantchromosomesresultingfromparentalpericentricinversionstwonewcasesandareviewoftheliterature |