Article
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
American journal of medical genetics. Part A - 1 Jul 2014
Guilherme Roberta Santos, Soares Karina Cunha, Simioni Milena, Vieira Tarsis Paiva, Gil-da-Silva-Lopes Vera Lúcia, Kim Chong Ae, Brunoni Décio, Spinner Nancy Bettina, Conlin Laura Kathleen, Christofolini Denise Maria, Kulikowski Leslie Domenici, Steiner Carlos Eduardo, Melaragno Maria Isabel
Abstract excerpt
We report here on six patients with a ring chromosome 22 and the range of cytogenetic and phenotypic features presented by them. Genomic analysis was carried out using classical and molecular cytogenetics, MLPA (Multiplex Ligation-dependent Probe Amplification) and genome-wide SNP-array analysis. The ring was found in all patients, but Patient 6 displayed constitutional mosaicism with a normal cell line. Five...
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