Article
[Genetic diagnosis and analysis for two cases of ring chromosome 22].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2016
Peng Ying, Tang Guizhi, Zhang Rui, Zhang Yanghui, Xia Yan, Ma Ruiyu, Guo Ruolan, Wu Lingqian
Abstract excerpt
OBJECTIVE: To confirm the genetic diagnosis of two patients with ring chromosome 22 syndrome and investigate the mechanism underlying the formation of r(22) and potential genetic causes for the clinical phenotypes. METHODS: Cytogenetic and molecular analyses using standard G-banding, fluorescence in situ hybridization and single nucleotide polymorphism array (SNP array) were performed. RESULTS: For case 1, the...
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