Author:
Peron Angela,Catusi Ilaria,Recalcati Maria Paola,Calzari Luciano,Larizza Lidia,Vignoli Aglaia,Canevini Maria Paola
Abstract
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issues in understanding the mechanisms through which ring 20 chromosome causes the typical manifestations, and present unpublished data about methylation studies.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.
Subject
Neurology (clinical),Neurology
Reference95 articles.
1. Ring chromosome 20;Daber;Eur J Med Genet.,2012
2. The genetics and clinical characteristics of constitutional ring chromosomes;Kosztolany;J Assoc Genet Technol.,2009
3. A ring-20 chromosome;Atkins;J Med Genet.,1972
4. Ring F chromosome mosaicism (46, XY, 20r/46,XY) in an epileptic child without apparent haematological disease;Faed;J Med Genet.,1972
Cited by
16 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献