Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.
array CGH
chromosome instability
cytogenetics
molecular karyotype
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
20 Mar 2022
20 Mar 2022
Historique:
received:
09
02
2022
revised:
16
03
2022
accepted:
17
03
2022
entrez:
25
3
2022
pubmed:
26
3
2022
medline:
9
4
2022
Statut:
epublish
Résumé
Improvements in microarray-based comparative genomic hybridization technology have allowed for high-resolution detection of genome wide copy number alterations, leading to a better definition of rearrangements and supporting the study of pathogenesis mechanisms. In this study, we focused our attention on chromosome 8p. We report 12 cases of 8p rearrangements, analyzed by molecular karyotype, evidencing a continuum of fragility that involves the entire short arm. The breakpoints seem more concentrated in three intervals: one at the telomeric end, the others at 8p23.1, close to the beta-defensin gene cluster and olfactory receptor low-copy repeats. Hypothetical mechanisms for all cases are described. Our data extend the cohort of published patients with 8p aberrations and highlight the need to pay special attention to these sequences due to the risk of formation of new chromosomal aberrations with pathological effects.
Identifiants
pubmed: 35328767
pii: ijms23063347
doi: 10.3390/ijms23063347
pmc: PMC8954119
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministry of Education, Universities and Research
ID : 2017-NAZ-0426
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