Ontology highlight
ABSTRACT:
SUBMITTER: Koolen DA
PROVIDER: S-EPMC3071570 | biostudies-literature | 2008 Nov
REPOSITORIES: biostudies-literature
Koolen D A DA Sharp A J AJ Hurst J A JA Firth H V HV Knight S J L SJ Goldenberg A A Saugier-Veber P P Pfundt R R Vissers L E L M LE Destrée A A Grisart B B Rooms L L Van der Aa N N Field M M Hackett A A Bell K K Nowaczyk M J M MJ Mancini G M S GM Poddighe P J PJ Schwartz C E CE Rossi E E De Gregori M M Antonacci-Fulton L L LL McLellan M D MD Garrett J M JM Wiechert M A MA Miner T L TL Crosby S S Ciccone R R Willatt L L Rauch A A Zenker M M Aradhya S S Manning M A MA Strom T M TM Wagenstaller J J Krepischi-Santos A C AC Vianna-Morgante A M AM Rosenberg C C Price S M SM Stewart H H Shaw-Smith C C Brunner H G HG Wilkie A O M AO Veltman J A JA Zuffardi O O Eichler E E EE de Vries B B A BB
Journal of medical genetics 20080715 11
<h4>Background</h4>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.<h4>Aim</h4>We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome.<h4>Results</h4>We estimate the prevalence of the syndrome to be 1 in 16,000 and show that it is highly underdiagnosed. Extensive clinical examination revea ...[more]