Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

@article{Swinkels2008ClinicalAC,
  title={Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.},
  author={Mari{\"e}lle E M Swinkels and Annet Simons and Dominique F. C. M. Smeets and Lisenka E L M Vissers and Joris A. Veltman and Rolph Pfundt and Bert B A de Vries and Brigitte H. W. Faas and Connie T R M Schrander-Stumpel and Emma McCann and Elizabeth J. Sweeney and Paul Thienphrapa May and Jos M T H Draaisma and Nine V. A. M. Knoers and Ad Geurts van Kessel and Conny M A van Ravenswaaij-Arts},
  journal={American journal of medical genetics. Part A},
  year={2008},
  volume={146A 11},
  pages={1430-8}
}
The deletion 9p syndrome is caused by a constitutional monosomy of part of the short arm of chromosome 9. It is clinically characterized by dysmorphic facial features (trigonocephaly, midface hypoplasia, and long philtrum), hypotonia and mental retardation. Deletion 9p is known to be heterogeneous and exhibits variable deletion sizes. The critical region for a consensus phenotype has been reported to be located within a approximately 4-6 Mb interval on 9p22. In the present study, deletion… CONTINUE READING