Journal article
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
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 17q21.31 microdeletion syndrome.
Authors
Koolen DA; Sharp AJ; Hurst JA; Firth HV; Knight SJL; Goldenberg A; Saugier-Veber P; Pfundt R; Vissers LELM; Destrée A
Journal
Journal of Medical Genetics, Vol. 45, No. 11,
Publisher
BMJ
Publication Date
November 2008
DOI
10.1136/jmg.2008.058701
ISSN
0022-2593