Article
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.
Journal of medical genetics - 1 Jan 2011
Conlin Laura K, Kramer Whitney, Hutchinson Anne L, Li Xia, Riethman Harold, Hakonarson Hakon, Mulley John C, Scheffer Ingrid E, Berkovic Samuel F, Hosain Syed A, Spinner Nancy B
Abstract excerpt
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,...
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