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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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Autor principal: Karbarz, Małgorzata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
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.
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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