Article
Position effect modifying gene expression in a patient with ring chromosome 14.
Journal of applied genetics - 1 May 2016
Guilherme Roberta Santos, Moysés-Oliveira Mariana, Dantas Anelisa Gollo, Meloni Vera Ayres, Colovati Mileny Esbravatti, Kulikowski Leslie Domenici, Melaragno Maria Isabel
Abstract excerpt
The clinical phenotype of patients with ring chromosomes usually reflects the loss of genomic material during ring formation. However, phenotypic alterations can also be found in the presence of complete ring chromosomes, in which the breakage and rejoining in terminal regions of both chromosome arms result in no gene loss. Here, we present a patient with a ring chromosome 14 that lost nothing but the telomeres....
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