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Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases

Satellited non-acrocentric autosomal chromosomes (ps–qs-chromosomes) are the result of an interchange between sub- or telomeric regions of autosomes and the p arm of acrocentrics. The sequence homology at the rearrangement breakpoints appears to be, among others, the most frequent mechanism generati...

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Autores principales: Redaelli, Serena, Conconi, Donatella, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Corti, Cecilia, Catusi, Ilaria, Garzo, Maria, Romitti, Lorenza, Martinoli, Emanuela, Patrizi, Antonella, Malgara, Roberta, Recalcati, Maria Paola, Dalprà, Leda, Lavitrano, Marialuisa, Riva, Paola, Roversi, Gaia, Bentivegna, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279238/
https://www.ncbi.nlm.nih.gov/pubmed/32413994
http://dx.doi.org/10.3390/ijms21103431
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author Redaelli, Serena
Conconi, Donatella
Villa, Nicoletta
Sala, Elena
Crosti, Francesca
Corti, Cecilia
Catusi, Ilaria
Garzo, Maria
Romitti, Lorenza
Martinoli, Emanuela
Patrizi, Antonella
Malgara, Roberta
Recalcati, Maria Paola
Dalprà, Leda
Lavitrano, Marialuisa
Riva, Paola
Roversi, Gaia
Bentivegna, Angela
author_facet Redaelli, Serena
Conconi, Donatella
Villa, Nicoletta
Sala, Elena
Crosti, Francesca
Corti, Cecilia
Catusi, Ilaria
Garzo, Maria
Romitti, Lorenza
Martinoli, Emanuela
Patrizi, Antonella
Malgara, Roberta
Recalcati, Maria Paola
Dalprà, Leda
Lavitrano, Marialuisa
Riva, Paola
Roversi, Gaia
Bentivegna, Angela
author_sort Redaelli, Serena
collection PubMed
description Satellited non-acrocentric autosomal chromosomes (ps–qs-chromosomes) are the result of an interchange between sub- or telomeric regions of autosomes and the p arm of acrocentrics. The sequence homology at the rearrangement breakpoints appears to be, among others, the most frequent mechanism generating these variant chromosomes. The unbalanced carriers of this type of translocation may or may not display phenotypic abnormalities. With the aim to understand the causative mechanism, we revised all the ps–qs-chromosomes identified in five medical genetics laboratories, which used the same procedures for karyotype analysis, reporting 24 unrelated cases involving eight chromosomes. In conclusion, we observed three different scenarios: true translocation, benign variant and complex rearrangement. The detection of translocation partners is essential to evaluate possible euchromatic unbalances and to infer their effect on phenotype. Moreover, we emphasize the importance to perform both, molecular and conventional cytogenetics methods, to better understand the behavior of our genome.
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spelling pubmed-72792382020-06-15 Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases Redaelli, Serena Conconi, Donatella Villa, Nicoletta Sala, Elena Crosti, Francesca Corti, Cecilia Catusi, Ilaria Garzo, Maria Romitti, Lorenza Martinoli, Emanuela Patrizi, Antonella Malgara, Roberta Recalcati, Maria Paola Dalprà, Leda Lavitrano, Marialuisa Riva, Paola Roversi, Gaia Bentivegna, Angela Int J Mol Sci Article Satellited non-acrocentric autosomal chromosomes (ps–qs-chromosomes) are the result of an interchange between sub- or telomeric regions of autosomes and the p arm of acrocentrics. The sequence homology at the rearrangement breakpoints appears to be, among others, the most frequent mechanism generating these variant chromosomes. The unbalanced carriers of this type of translocation may or may not display phenotypic abnormalities. With the aim to understand the causative mechanism, we revised all the ps–qs-chromosomes identified in five medical genetics laboratories, which used the same procedures for karyotype analysis, reporting 24 unrelated cases involving eight chromosomes. In conclusion, we observed three different scenarios: true translocation, benign variant and complex rearrangement. The detection of translocation partners is essential to evaluate possible euchromatic unbalances and to infer their effect on phenotype. Moreover, we emphasize the importance to perform both, molecular and conventional cytogenetics methods, to better understand the behavior of our genome. MDPI 2020-05-13 /pmc/articles/PMC7279238/ /pubmed/32413994 http://dx.doi.org/10.3390/ijms21103431 Text en © 2020 by the authors. 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 Article
Redaelli, Serena
Conconi, Donatella
Villa, Nicoletta
Sala, Elena
Crosti, Francesca
Corti, Cecilia
Catusi, Ilaria
Garzo, Maria
Romitti, Lorenza
Martinoli, Emanuela
Patrizi, Antonella
Malgara, Roberta
Recalcati, Maria Paola
Dalprà, Leda
Lavitrano, Marialuisa
Riva, Paola
Roversi, Gaia
Bentivegna, Angela
Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases
title Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases
title_full Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases
title_fullStr Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases
title_full_unstemmed Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases
title_short Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases
title_sort instability of short arm of acrocentric chromosomes: lesson from non-acrocentric satellited chromosomes. report of 24 unrelated cases
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279238/
https://www.ncbi.nlm.nih.gov/pubmed/32413994
http://dx.doi.org/10.3390/ijms21103431
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