Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.

@article{Karnebeek2002ProspectiveSF,
  title={Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.},
  author={Clara D M van Karnebeek and Cindy Koevoets and Sigrid Sluijter and Emilia K. Bijlsma and Dominique F. C. M. Smeets and Egbert Johan Willem Redeker and Raoul C Hennekam and Jan M. N. Hoovers},
  journal={Journal of medical genetics},
  year={2002},
  volume={39 8},
  pages={546-53}
}
OBJECTIVE The frequency of subtelomeric rearrangements in patients with unexplained mental retardation (MR) is uncertain, as most studies have been retrospective and case retrieval may have been biased towards cases more likely to have a chromosome anomaly. To ascertain the frequency of cytogenetic anomalies, including subtelomeric rearrangements, we prospectively screened a consecutive cohort of cases with unexplained MR in an academic tertiary centre. METHODS Inclusion criteria were: age… CONTINUE READING

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