35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome.
作者： Catherine Sarri , Sofia Douzgou , Haris Kontos , Katherine Anagnostopoulou , Zeynep Tümer
DOI: 10.1159/000382046
关键词: Subtelomere 、 Ring (chemistry) 、 Biology 、 Genetics 、 Ring chromosome 、 Chromosome 、 Genetic marker 、 Multiplex ligation-dependent probe amplification 、 Comparative genomic hybridization 、 Long arm
摘要: Cote et al. [1981] suggested that ring chromosomes with or without deletions share a common pattern of phenotypic anomalies, regardless which chromosome is involved. The phenotype this 'general syndrome' consists growth failure malformations, few no minor and mild to moderate mental retardation. We reconsidered the 2 case previously published by [1981], we characterized it array CGH, polymorphic markers as well subtelomere MLPA FISH analysis. A terminal deletion (q37.3qter) maternal origin long arm was detected confirmed all above-mentioned methods. Ring cases are exceedingly rare. Only 18 cases, including present one, have been so far, our patient longest reported survivor, 35-year follow-up, third array-CGH
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