Subtelomeric chromosome rearrangements in children with unexplained mental retardation in the population of the United Arab Emirates

Lihadh Al-Gazali, Valsa Eapen, Aithala Guru Raj, Thachillath Pramathan

Research output: Contribution to journalArticlepeer-review

Abstract

Cryptic subtelomeric chromosome anomalies have been recognized as a significant cause of mental retardation. Their frequency in mental retardation in the UAE population has not been determined. The aim of the study was to determine the frequency of such abnormalities in mental retardation in the UAE population. We screened 105 patients with idiopathic mental retardation who had normal G banded karyotype at 400-500 band level and where no recognizable cause for their mental retardation was identified. We detected 3 (2.8%) subtelomeric deletion/ duplication that are considered disease causing. One of these anomalies was familial. We also found 2 (1.9%) small rearrangements which are probably not related to the patient's phenotype. Our results are comparable to other studies and suggest that telomere screening should be included in the list of investigation of mentally retarded children in the UAE.

Original languageEnglish
Pages (from-to)23-28
Number of pages6
JournalEmirates Medical Journal
Volume25
Issue number1
Publication statusPublished - Apr 2007

Keywords

  • Idiopathic mental retardation
  • Subtelomeric chromosome abnormalities
  • United Arab Emirates

ASJC Scopus subject areas

  • Medicine(all)

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