Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases
<b> </b>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 frequen...
Main Authors: | , , , , , , , , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-05-01
|
Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/21/10/3431 |
id |
doaj-5c400ef862de4d90b32ca6dc0632cc04 |
---|---|
record_format |
Article |
spelling |
doaj-5c400ef862de4d90b32ca6dc0632cc042020-11-25T03:29:39ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672020-05-01213431343110.3390/ijms21103431Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated CasesSerena Redaelli0Donatella Conconi1Nicoletta Villa2Elena Sala3Francesca Crosti4Cecilia Corti5Ilaria Catusi6Maria Garzo7Lorenza Romitti8Emanuela Martinoli9Antonella Patrizi10Roberta Malgara11Maria Paola Recalcati12Leda Dalprà13Marialuisa Lavitrano14Paola Riva15Gaia Roversi16Angela Bentivegna17School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalyMedical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, ItalyMedical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, ItalyMedical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, ItalyMedical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, ItalyMedical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, ItalyMedical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, ItalyPathology and Cytogenetics Laboratory, Clinical Pathology Department, Niguarda Ca’ Granda Hospital, 20162 Milan, ItalyMedical Genetics Laboratory, Medical Biotechnology and Translational Medicine Department, University of Milan, 20090 Milan, ItalyMedical Cytogenetics Laboratory, Clinical Pathology Department, San Paolo Hospital, 20142 Milan, ItalyMedical Cytogenetics Laboratory, Clinical Pathology Department, San Paolo Hospital, 20142 Milan, ItalyMedical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalyMedical Genetics Laboratory, Medical Biotechnology and Translational Medicine Department, University of Milan, 20090 Milan, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy<b> </b>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<b> </b>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.https://www.mdpi.com/1422-0067/21/10/3431cytogenomic instabilityacrocentric chromosomessatellited non-acrocentric chromosomeschromosome analysisarray CGH |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Serena Redaelli Donatella Conconi Nicoletta Villa Elena Sala Francesca Crosti Cecilia Corti Ilaria Catusi Maria Garzo Lorenza Romitti Emanuela Martinoli Antonella Patrizi Roberta Malgara Maria Paola Recalcati Leda Dalprà Marialuisa Lavitrano Paola Riva Gaia Roversi Angela Bentivegna |
spellingShingle |
Serena Redaelli Donatella Conconi Nicoletta Villa Elena Sala Francesca Crosti Cecilia Corti Ilaria Catusi Maria Garzo Lorenza Romitti Emanuela Martinoli Antonella Patrizi Roberta Malgara Maria Paola Recalcati Leda Dalprà Marialuisa Lavitrano Paola Riva Gaia Roversi Angela Bentivegna Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases International Journal of Molecular Sciences cytogenomic instability acrocentric chromosomes satellited non-acrocentric chromosomes chromosome analysis array CGH |
author_facet |
Serena Redaelli Donatella Conconi Nicoletta Villa Elena Sala Francesca Crosti Cecilia Corti Ilaria Catusi Maria Garzo Lorenza Romitti Emanuela Martinoli Antonella Patrizi Roberta Malgara Maria Paola Recalcati Leda Dalprà Marialuisa Lavitrano Paola Riva Gaia Roversi Angela Bentivegna |
author_sort |
Serena Redaelli |
title |
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_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_sort |
instability of short arm of acrocentric chromosomes: lesson from non-acrocentric satellited chromosomes. report of 24 unrelated cases |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1661-6596 1422-0067 |
publishDate |
2020-05-01 |
description |
<b> </b>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<b> </b>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. |
topic |
cytogenomic instability acrocentric chromosomes satellited non-acrocentric chromosomes chromosome analysis array CGH |
url |
https://www.mdpi.com/1422-0067/21/10/3431 |
work_keys_str_mv |
AT serenaredaelli instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT donatellaconconi instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT nicolettavilla instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT elenasala instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT francescacrosti instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT ceciliacorti instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT ilariacatusi instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT mariagarzo instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT lorenzaromitti instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT emanuelamartinoli instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT antonellapatrizi instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT robertamalgara instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT mariapaolarecalcati instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT ledadalpra instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT marialuisalavitrano instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT paolariva instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT gaiaroversi instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases AT angelabentivegna instabilityofshortarmofacrocentricchromosomeslessonfromnonacrocentricsatellitedchromosomesreportof24unrelatedcases |
_version_ |
1724577880425365504 |