RT Journal Article
SR Electronic
T1 Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 480
OP 489
DO 10.1136/jmg.2008.065391
VO 46
IS 7
A1 T Y Tan
A1 S Aftimos
A1 L Worgan
A1 R Susman
A1 M Wilson
A1 S Ghedia
A1 E P Kirk
A1 D Love
A1 A Ronan
A1 A Darmanian
A1 A Slavotinek
A1 J Hogue
A1 J B Moeschler
A1 J Ozmore
A1 R Widmer
A1 R Savarirayan
A1 G Peters
YR 2009
UL http://jmg.bmj.com/content/46/7/480.abstract
AB 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.Methods and 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.Conclusion: These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.