Forskning ved Københavns Universitet - Københavns Universitet


35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

Publikation: Bidrag til tidsskriftTidsskriftartikel

  • Catherine Sarri
  • Sofia Douzgou
  • Haris Kontos
  • Katherine Anagnostopoulou
  • Tümer, Zeynep
  • Maria Grigoriadou
  • Michael B Petersen
  • Haris Kokotas
  • Konstantina Merou
  • Efi Pandelia
  • Elena Giouroukou
  • Katerina Papanikolaou
  • Gilbert B Côté
  • Yolanda Gyftodimou

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.

TidsskriftCytogenetic and Genome Research
Udgave nummer1
Sider (fra-til)6-13
Antal sider8
StatusUdgivet - 2015

ID: 161727771