Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

  title={Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.},
  author={David A. Koolen and Andrew J. Sharp and Jane A. Hurst and Helen V. Firth and Samantha J. L. Knight and Alice Goldenberg and Pascale Saugier-V{\'e}ber and Rolph Pfundt and Lisenka E L M Vissers and Anne Destr{\'e}e and Bernard Grisart and Liesbeth Rooms and Nathalie van der Aa and Michel Field and Anna Hackett and Kathleen Bell and Małgorzata J M Nowaczyk and Grazia M S Mancini and Pino J. Poddighe and Charles E. Schwartz and Elena Rossi and Manuela De Gregori and L L Antonacci-Fulton and Michael D. McLellan and Joanne Mills Garrett and Marie Wiechert and Tracie L. Miner and Seth Crosby and Roberto Ciccone and Lionel R Willatt and Anita Rauch and Martin Zenker and Swaroop Aradhya and Melanie A. Manning and Tim Matthias Strom and Janine Wagenstaller and Ana Cristina V. Krepischi-Santos and Angela Maria Vianna-Morgante and Carla Rosenberg and Susan M. Price and Helen Stewart and Charles J. Shaw-Smith and Han G. Brunner and Andrew O. M. Wilkie and Joris A. Veltman and Orsetta Zuffardi and Evan E. Eichler and Bert B A de Vries},
  journal={Journal of medical genetics},
  volume={45 11},
BACKGROUND The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. AIM We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. RESULTS We estimate the prevalence of the syndrome to be 1 in 16,000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that… CONTINUE READING
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