Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

@article{Veltman2003DefinitionOA,
  title={Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.},
  author={Joris A. Veltman and Yvonne M H Jonkers and Inge Nuijten and Irene C M Janssen and Walter A van der Vliet and Erik H L P G Huys and Joris Robert Vermeesch and Griet van Buggenhout and J E Fryns and Ronald J. C. Admiraal and Paulien Anna Terhal and Didier Lacombe and Ad Geurts van Kessel and Dominique F. C. M. Smeets and Eric F. P. M. Schoenmakers and Conny M A van Ravenswaaij-Arts},
  journal={American journal of human genetics},
  year={2003},
  volume={72 6},
  pages={1578-84}
}
Deletions of the long arm of chromosome 18 occur in approximately 1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in approximately 66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom 18 had microscopically visible 18q deletions. The extent and nature of the chromosome-18 deletions were studied in detail by array-based comparative genomic hybridization (arrayCGH). High… CONTINUE READING
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