Recombinant Chromosomes Resulting From Parental Pericentric Inversions-Two New Cases and a Review of the Literature.
balanced pericentric inversion
deletion
dosage sensitive genes
duplication
recombinant chromosomes
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2019
2019
Historique:
received:
13
08
2019
accepted:
23
10
2019
entrez:
5
12
2019
pubmed:
5
12
2019
medline:
5
12
2019
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 31798640
doi: 10.3389/fgene.2019.01165
pmc: PMC6868022
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1165Informations de copyright
Copyright © 2019 Liehr, Weise, Mrasek, Ziegler, Padutsch, Wilhelm and Al-Rikabi.
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