title: Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
abstract: BACKGROUND
  The recognition of the 17q21.31 microdeletion syndrome has been facilitated by high resolution microarray technology. Recent clinical delineation of this condition emphasises a typical facial appearance, cardiac and renal defects, and speech delay in addition to intellectual disability, hypotonia and seizures.
  
  
  RESULTS
  We describe 11 previously unreported patients expanding the phenotypic spectrum to include aortic root dilatation, recurrent joint subluxation, conductive hearing loss due to chronic otitis media, dental anomalies, and persistence of fetal fingertip pads. Molecular analysis of the deletions demonstrates a critical region spanning 440 kb involving either partially or wholly five genes, CRHR1, IMP5, MAPT, STH, and KIAA1267.
  
  
  CONCLUSIONS
  These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.
authors.forename: T Y
authors.initials: TY
authors.lastname: Tan
authors.forename: S
authors.initials: S
authors.lastname: Aftimos
authors.forename: L
authors.initials: L
authors.lastname: Worgan
authors.forename: R
authors.initials: R
authors.lastname: Susman
authors.forename: M
authors.initials: M
authors.lastname: Wilson
authors.forename: S
authors.initials: S
authors.lastname: Ghedia
authors.forename: E P
authors.initials: EP
authors.lastname: Kirk
authors.forename: D
authors.initials: D
authors.lastname: Love
authors.forename: A
authors.initials: A
authors.lastname: Ronan
authors.forename: A
authors.initials: A
authors.lastname: Darmanian
authors.forename: A
authors.initials: A
authors.lastname: Slavotinek
authors.forename: J
authors.initials: J
authors.lastname: Hogue
authors.forename: J B
authors.initials: JB
authors.lastname: Moeschler
authors.forename: J
authors.initials: J
authors.lastname: Ozmore
authors.forename: R
authors.initials: R
authors.lastname: Widmer
authors.forename: Damien
authors.initials: D
authors.lastname: Bruno
authors.forename: R
authors.initials: R
authors.lastname: Savarirayan
authors.forename: G
authors.initials: G
authors.lastname: Peters
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D055028:Comparative Genomic Hybridization; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D013577:Syndrome