Article
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
Journal of medical genetics - 1 Nov 2008
Koolen D A, Sharp A J, Hurst J A, Firth H V, Knight S J L, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers L E L M, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk M J M, Mancini G M S, Poddighe P J, Schwartz C E, Rossi E, De Gregori M, Antonacci-Fulton L L, McLellan M D, Garrett J M, Wiechert M A, Miner T L, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning M A, Strom T M, Wagenstaller J, Krepischi-Santos A C, Vianna-Morgante A M, Rosenberg C, Price S M, Stewart H, Shaw-Smith C, Brunner H G, Wilkie A O M, Veltman J A, Zuffardi O, Eichler E E, de Vries B B A
Abstract excerpt
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...
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