Ring chromosome 20 [r(20)] syndrome is a rare condition characterized by a non-supernumerary ring chromosome 20 replacing a normal chromosome 20. It is commonly seen in a mosaic state and is diagnosed by means of karyotyping. r(20) syndrome is characterized by a recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes. Despite the distinctive phenotype, many patients still lack a diagnosis—especially in the genomic era—and the pathomechanisms of ring formation are poorly understood. In this review we address the genetic and clinical aspects of r(20) syndrome, and discuss differential diagnoses and overlapping phenotypes, providing the reader with useful tools for clinical and laboratory practice. We also discuss the current issues in understanding the mechanisms through which ring 20 chromosome causes the typical manifestations, and present unpublished data about methylation studies. Ultimately, we explore future perspectives of r(20) research. Our intended audience is clinical and laboratory geneticists, child and adult neurologists, and genetic counselors.
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes / A. Peron, I. Catusi, M.P. Recalcati, L. Calzari, L. Larizza, A. Vignoli, M.P. Canevini. - In: FRONTIERS IN NEUROLOGY. - ISSN 1664-2295. - 11(2020 Dec 08), pp. 613035.1-613035.15.
|Titolo:||Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes|
PERON, ANGELA (Primo) (Corresponding)
CANEVINI, MARIA PAOLA (Ultimo)
|Parole Chiave:||ring chromosome 20 syndrome r(20); ring chromosomes; mosaicism; cytogenetics; karyotype; seizures; rare disease; epilepsy|
|Settore Scientifico Disciplinare:||Settore MED/03 - Genetica Medica|
Settore MED/39 - Neuropsichiatria Infantile
|Data di pubblicazione:||8-dic-2020|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.3389/fneur.2020.613035|
|Appare nelle tipologie:||01 - Articolo su periodico|