Article
Mechanisms of ring chromosome formation, ring instability and clinical consequences.
BMC medical genetics - 21 Dec 2011
Guilherme Roberta S, Meloni Vera F Ayres, Kim Chong A, Pellegrino Renata, Takeno Sylvia S, Spinner Nancy B, Conlin Laura K, Christofolini Denise M, Kulikowski Leslie D, Melaragno Maria I
Abstract excerpt
BACKGROUND: The breakpoints and mechanisms of ring chromosome formation were studied and mapped in 14 patients. METHODS: Several techniques were performed such as genome-wide array, MLPA (Multiplex Ligation-Dependent Probe Amplification) and FISH (Fluorescent in situ Hybridization). RESULTS: The ring chromosomes of patients I to XIV were determined to be, respectively: r(3)(p26.1q29), r(4)(p16.3q35.2),...
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