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Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels
Chromosomal 22q11.2 deletion syndrome (22q11.2DS) (ORPHA: 567) caused by microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder in humans. Despite the same change on the genome level, like in the case of monozygotic twins, phenotypes are expressed differently in 22q11.2...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563277/ https://www.ncbi.nlm.nih.gov/pubmed/32842603 http://dx.doi.org/10.3390/genes11090977 |
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author | Karbarz, Małgorzata |
author_facet | Karbarz, Małgorzata |
author_sort | Karbarz, Małgorzata |
collection | PubMed |
description | Chromosomal 22q11.2 deletion syndrome (22q11.2DS) (ORPHA: 567) caused by microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder in humans. Despite the same change on the genome level, like in the case of monozygotic twins, phenotypes are expressed differently in 22q11.2 deletion individuals. The rest of the genome, as well as epigenome and environmental factors, are not without influence on the variability of phenotypes. The penetrance seems to be more genotype specific than deleted locus specific. The transcript levels of deleted genes are not usually reduced by 50% as assumed due to haploinsufficiency. 22q11.2DS is often an undiagnosed condition, as each patient may have a different set out of 180 possible clinical manifestations. Diverse dysmorphic traits are present in patients from different ethnicities, which makes diagnosis even more difficult. 22q11.2 deletion syndrome serves as an example of a genetic syndrome that is not easy to manage at all stages: diagnosis, consulting and dealing with. |
format | Online Article Text |
id | pubmed-7563277 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-75632772020-10-27 Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels Karbarz, Małgorzata Genes (Basel) Review Chromosomal 22q11.2 deletion syndrome (22q11.2DS) (ORPHA: 567) caused by microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder in humans. Despite the same change on the genome level, like in the case of monozygotic twins, phenotypes are expressed differently in 22q11.2 deletion individuals. The rest of the genome, as well as epigenome and environmental factors, are not without influence on the variability of phenotypes. The penetrance seems to be more genotype specific than deleted locus specific. The transcript levels of deleted genes are not usually reduced by 50% as assumed due to haploinsufficiency. 22q11.2DS is often an undiagnosed condition, as each patient may have a different set out of 180 possible clinical manifestations. Diverse dysmorphic traits are present in patients from different ethnicities, which makes diagnosis even more difficult. 22q11.2 deletion syndrome serves as an example of a genetic syndrome that is not easy to manage at all stages: diagnosis, consulting and dealing with. MDPI 2020-08-22 /pmc/articles/PMC7563277/ /pubmed/32842603 http://dx.doi.org/10.3390/genes11090977 Text en © 2020 by the author. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Karbarz, Małgorzata Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels |
title | Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels |
title_full | Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels |
title_fullStr | Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels |
title_full_unstemmed | Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels |
title_short | Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels |
title_sort | consequences of 22q11.2 microdeletion on the genome, individual and population levels |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563277/ https://www.ncbi.nlm.nih.gov/pubmed/32842603 http://dx.doi.org/10.3390/genes11090977 |
work_keys_str_mv | AT karbarzmałgorzata consequencesof22q112microdeletiononthegenomeindividualandpopulationlevels |