Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

@article{Koolen2004ScreeningFS,
  title={Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).},
  author={David A. Koolen and Willy M. Nillesen and Martina H A Versteeg and Gerard F. M. Merkx and Nine V. V. A. M. Knoers and Marleen Kets and Sascha Vermeer and C M A van Ravenswaaij and Carolien Gerda Franciska De Kovel and Han G. Brunner and Dominiek Smeets and Bert B A de Vries and Erik A Sistermans},
  journal={Journal of medical genetics},
  year={2004},
  volume={41 12},
  pages={892-9}
}
BACKGROUND Subtelomeric rearrangements contribute to idiopathic mental retardation and human malformations, sometimes as distinct mental retardation syndromes. However, for most subtelomeric defects a characteristic clinical phenotype remains to be elucidated. OBJECTIVE To screen for submicroscopic subtelomeric aberrations using multiplex ligation dependent probe amplification (MLPA). METHODS 210 individuals with unexplained mental retardation were studied. A new set of subtelomeric probes… CONTINUE READING