Subtelomeric rearrangements detected in patients with idiopathic mental retardation

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Abstract
A screening for submicroscopic rearrangements was performed in 111 patients with idiopathic mental retardation (MR) using fluorescence in situ hybridization (FISH) probes from the subtelomeric regions of all chromosome arms. Ten cryptic rearrangements were found (9%): five de novo deletions; one unbalanced de novo translocation; three unbalanced inherited translocations; and one unbalanced recombinant chromosome, inherited from a parent with a pericentric inversion. In addition, 50 of the patients were screened for interstitial rearrangements with spectral karyotyping (SKY), but no aberrations were found. However, SKY detected the subtelomeric rearrangement in three of the four unbalanced translocations. Dysmorphic features were present in all patients with detected subtelomeric rearrangements.
Funding Information
  • Swedish Medical Research Council
  • Frimurarna Barnahuset Foundation
  • Holmia
  • Kronprinsessan Lovisa and Axel Thielman Foundation
  • Queen Silvia Foundation
  • Ronald McDonald Child Foundation
  • Sunnerdahl Foundation
  • Sävstaholm Foundation