35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome
| Autor: | Konstantina Merou, Katherine Anagnostopoulou, Michael B. Petersen, Zeynep Tümer, Efi Pandelia, Yolanda Gyftodimou, Catherine Sarri, Haris Kontos, Sofia Douzgou, Elena Giouroukou, Katerina Papanikolaou, Gilbert B. Côté, Maria Grigoriadou, Haris Kokotas |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Genetics Comparative Genomic Hybridization Ring chromosome Chromosome Fish analysis Biology Ring (chemistry) Subtelomere Genetic marker Chromosomes Human Pair 2 Intellectual Disability Humans Female Ring Chromosomes Multiplex ligation-dependent probe amplification Chromosome Deletion Hand Deformities Congenital Molecular Biology Growth Disorders Genetics (clinical) Follow-Up Studies Comparative genomic hybridization |
| Zdroj: | Cytogenetic and Genome Research. 145:6-13 |
| ISSN: | 1424-859X 1424-8581 |
| DOI: | 10.1159/000382046 |
| Popis: | Côté et al. [1981] suggested that ring chromosomes with or without deletions share a common pattern of phenotypic anomalies, regardless of which chromosome is involved. The phenotype of this ‘general ring syndrome' consists of growth failure without malformations, few or no minor anomalies, and mild to moderate mental retardation. We reconsidered the ring chromosome 2 case previously published by Côté et al. [1981], and we characterized it by array CGH, polymorphic markers as well as subtelomere MLPA and FISH analysis. A terminal deletion (q37.3qter) of maternal origin of the long arm of the ring chromosome 2 was detected and confirmed by all the above-mentioned methods. Ring chromosome 2 cases are exceedingly rare. Only 18 cases, including the present one, have been published so far, and our patient is the longest reported survivor, with a 35-year follow-up, and the third case characterized by array-CGH analysis. |
| Databáze: | OpenAIRE |
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