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

A. Koolen, David; J. Sharp, Andrew; A. Hurst, Jane; V. Firth, Helen; J.L. Knight, Samantha; Goldenberg, Alice; Saugier-Véber, Pascale; Pfundt, Rolph; E.L.M. Vissers, Lisenka; Destrèe, Anne; Grisart, Bernard; Rooms, Liesbeth; Van der Aa, Nathalie; Field, Michael; Hackett, Anna; M. Bell, Katrina; Nowaczyk, M.J.M.; M.S. Mancini, Grazia; J. Poddighe, Pino; E. Schwartz, Charles; Rossi, Elena; De Gregori, Manuela; Antonacci-Fulton, Lucinda; D. McLellan, Michael; M Garrett, J; Wiechert, Maddy; L. Miner, Tracie; D. Crosby, Seth; Ciccone, Roberto; Willatt, Lionel; Rauch, Anita; Zenker, Martin; Aradhya, Swaroop; A. Manning, Melanie; M. Strom, Tim; Wagenstaller, Janine; Cristina Victorino Krepischi, Ana; Maria Vianna‐Morgante, Angela; Rosenberg, Carla; Price, Sue; Stewart, Helen; Shaw‐Smith, Charles; G. Brunner, Han; O.M. Wilkie, Andrew; A. Veltman, Joris; Zuffardi, Orsetta; E. Eichler, Evan; B.A. de Vries, Bert

doi:10.1136/jmg.2008.058701

Public

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

Published in Journal of Medical Genetics • Jul 15, 2008

Authors:

David A. Koolen

Andrew J. Sharp

Jane A. Hurst

Abstract

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 1...

Subject

Breakpoint

Genetics

Hypotonia

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