title: 35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome.
abstract: 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.
authors.affiliation: Department of Genetics, Institute of Child Health, Athens, Greece.
authors.forename: Catherine
authors.initials: C
authors.lastname: Sarri
authors.forename: Sofia
authors.initials: S
authors.lastname: Douzgou
authors.forename: Haris
authors.initials: H
authors.lastname: Kontos
authors.forename: Katherine
authors.initials: K
authors.lastname: Anagnostopoulou
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.forename: Maria
authors.initials: M
authors.lastname: Grigoriadou
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
authors.forename: Haris
authors.initials: H
authors.lastname: Kokotas
authors.forename: Konstantina
authors.initials: K
authors.lastname: Merou
authors.forename: Efi
authors.initials: E
authors.lastname: Pandelia
authors.forename: Elena
authors.initials: E
authors.lastname: Giouroukou
authors.forename: Katerina
authors.initials: K
authors.lastname: Papanikolaou
authors.forename: Gilbert B
authors.initials: GB
authors.lastname: Côté
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Gyftodimou
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D012303:Ring Chromosomes