Research Article

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

  1. Britt-Marie Anderlid1,*,
  2. Jacqueline Schoumans1,
  3. Göran Annerén2,
  4. Sigrid Sahlén1,
  5. Mårten Kyllerman3,
  6. Mihailo Vujic4,
  7. Bengt Hagberg3,
  8. Elisabeth Blennow1,
  9. Magnus Nordenskjöld1

Article first published online: 5 DEC 2002

DOI: 10.1002/ajmg.10029

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 107, Issue 4, pages 275–284, 1 February 2002

Additional Information

How to Cite

Anderlid, B.-M., Schoumans, J., Annerén, G., Sahlén, S., Kyllerman, M., Vujic, M., Hagberg, B., Blennow, E. and Nordenskjöld, M. (2002), Subtelomeric rearrangements detected in patients with idiopathic mental retardation. American Journal of Medical Genetics, 107: 275–284. doi: 10.1002/ajmg.10029

Author Information

  1. 1

    Department of Molecular Medicine, Clinical Genetic Unit, Karolinska Hospital, Stockholm, Sweden

  2. 2

    Department of Clinical Genetics, Uppsala University Children's Hospital, Sweden

  3. 3

    Queen Silvia Children's Hospital, Section of Neuropediatrics, Göteborg University, Sweden

  4. 4

    Department of Clinical Genetics, Sahlgrenska University Hospital/Östra, Göteborg, Sweden

*Department of Molecular Medicine, CMM, L8:02, Karolinska Hospital, S-171 76 Stockholm, Sweden.

Publication History

  1. Issue published online: 5 DEC 2002
  2. Article first published online: 5 DEC 2002
  3. Manuscript Accepted: 30 JUL 2001
  4. Manuscript Received: 7 MAY 2001

Funded by

  • 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

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Keywords:

  • mental retardation;
  • FISH;
  • SKY;
  • subtelomeric;
  • cryptic chromosomal aberration;
  • chromosome deletion;
  • chromosome translocation

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. © 2001 Wiley-Liss, Inc.

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