High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism

A. Novelli, C. Ceccarini, L. Bernardini, D. Zuccarello, V. Caputo, M. C. Digilio, R. Mingarelli, Bruno Dallapiccola

Research output: Contribution to journalArticle


About 5-10% of patients with dysmorphisms, severe mental retardation, and normal standard karyotype are affected by subtelomeric chromosome rearrangements. Sequence homology between different chromosomes and variability between homologs make these regions more susceptible to breakage and reunion. We analyzed the telomeric regions of 92 of these patients, selected with strict clinical criteria. Fifteen individuals (16.3%) had subtelomeric rearrangements. Nine had a unique anomaly, which in one case had been inherited from a balanced parent. Six subjects had double segmental imbalances, including three de novo imbalances. This study provides further evidence for the plasticity of subtelomeric regions, which often results in cryptic rearrangements, and recommends stringent criteria for selecting patient candidates to telomere analysis.

Original languageEnglish
Pages (from-to)30-38
Number of pages9
JournalClinical Genetics
Issue number1
Publication statusPublished - Jul 2004



  • Chromosome
  • Dysmorphisms
  • FISH
  • Mental retardation
  • Telomere

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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