Journal article
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients
LK Conlin, W Kramer, AL Hutchinson, X Li, H Riethman, H Hakonarson, JC Mulley, IE Scheffer, SF Berkovic, SA Hosain, NB Spinner
Journal of Medical Genetics | Published : 2011
Abstract
Background: The ring chromosome 20 syndrome (R20) is a rare genetic disorder associated with a refractory electroclinical epilepsy syndrome and variably expressed comorbidities of intellectual disability and dysmorphism. Methods: To understand the structure and composition of the ring chromosome 20 (r(20)) in this patient cohort, blood specimens from 28 affected individuals were analysed by cytogenetic, fluorescence in situ hybridisation, and/or high resolution whole genome single nucleotide polymorphism array analysis. Results: These studies revealed two distinct groups of patients. Group 1 (N=21) was mosaic for the r(20) and a normal cell line with no detectable deletions or duplications o..
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Funding Acknowledgements
[ "We are grateful to the patients and their families for participating in our research and to the clinicians who referred patients or provided clinical data. We would like to specifically thank Dr Antonio Gil-Nagel. We are particularly grateful to Stewart Ford, Pierra LeGorrec, Donald Brown and David Barriera of the Ring Chromosome 20 Foundation. Funding for this study was provided by the Ring Chromosome 20 Foundation (NBS, SAH), The Children's Hospital of Philadelphia Research Institute (NBS), and the National Health and Medical Research Council of Australia (JCM, IES, SFB).", "Ring Chromosome 20 Foundation; The Children's Hospital of Philadelphia Research Institute; National Health and Medical Research Council of Australia." ]