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Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach
The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects—most frequently conotruncal cardiac anomalies—thymic...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179617/ https://www.ncbi.nlm.nih.gov/pubmed/37176024 http://dx.doi.org/10.3390/ijms24098317 |
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author | Szczawińska-Popłonyk, Aleksandra Schwartzmann, Eyal Chmara, Zuzanna Głukowska, Antonina Krysa, Tomasz Majchrzycki, Maksymilian Olejnicki, Maurycy Ostrowska, Paulina Babik, Joanna |
author_facet | Szczawińska-Popłonyk, Aleksandra Schwartzmann, Eyal Chmara, Zuzanna Głukowska, Antonina Krysa, Tomasz Majchrzycki, Maksymilian Olejnicki, Maurycy Ostrowska, Paulina Babik, Joanna |
author_sort | Szczawińska-Popłonyk, Aleksandra |
collection | PubMed |
description | The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects—most frequently conotruncal cardiac anomalies—thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, and neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers and environmental factors, as well as the impact of hemizygosity on the remaining allele, contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach. |
format | Online Article Text |
id | pubmed-10179617 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-101796172023-05-13 Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach Szczawińska-Popłonyk, Aleksandra Schwartzmann, Eyal Chmara, Zuzanna Głukowska, Antonina Krysa, Tomasz Majchrzycki, Maksymilian Olejnicki, Maurycy Ostrowska, Paulina Babik, Joanna Int J Mol Sci Review The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects—most frequently conotruncal cardiac anomalies—thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, and neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers and environmental factors, as well as the impact of hemizygosity on the remaining allele, contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach. MDPI 2023-05-05 /pmc/articles/PMC10179617/ /pubmed/37176024 http://dx.doi.org/10.3390/ijms24098317 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Szczawińska-Popłonyk, Aleksandra Schwartzmann, Eyal Chmara, Zuzanna Głukowska, Antonina Krysa, Tomasz Majchrzycki, Maksymilian Olejnicki, Maurycy Ostrowska, Paulina Babik, Joanna Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach |
title | Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach |
title_full | Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach |
title_fullStr | Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach |
title_full_unstemmed | Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach |
title_short | Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach |
title_sort | chromosome 22q11.2 deletion syndrome: a comprehensive review of molecular genetics in the context of multidisciplinary clinical approach |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179617/ https://www.ncbi.nlm.nih.gov/pubmed/37176024 http://dx.doi.org/10.3390/ijms24098317 |
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