Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications

Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications

Abstract Ring chromosome 18 (r(18)) is a rare chromosomal abnormality characterized by the circular rearrangement of chromosome 18, which presents significant challenges in genotype-phenotype correlations due to variability in deletions across the 18p and 18q arms. We report the case of a pediatric...

Full description

Saved in:
Bibliographic Details
Main Authors: Annalaura Montanari, Paola Caforio, Annalisa Paparella, Paola Casieri, Maria Cristina Nuzzi, Maria Fatima Antonucci, Claudia Rita Catacchio, Marilina Tampoia, Mattia Gentile, Roberta Bucci, Valerio Cecinati, Angelo Cellamare, Francesca Antonacci
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Molecular Cytogenetics
Online Access:https://doi.org/10.1186/s13039-024-00700-5
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1186/s13039-024-00700-5

Similar Items