Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/917364

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Title
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
Author/Creator
Tan, T. Y.;  Aftimos, S.;  Slavotinek, A.;  Hogue, J.;  Moeschler, J. B.;  Ozmore, J.;  Widmer, R.;  Savarirayan, R.;  Peters, G.;  Worgan, L.;  Susman, R.;  Wilson, M.;  Ghedia, S.;  Kirk, E. P.;  Love, D.;  Ronan, A.;  Darmanian, A.
Institution
The University of Newcastle. Faculty of Health, School of Medicine and Public Health
Description
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.
Relation
Journal of Medical Genetics Vol. 46, Issue 7, p. 480-489
Publisher Link
http://dx.doi.org/10.1136/jmg.2008.065391
Date
2009
Publisher
BMJ Publishing
Keyword(s)
MAPT;  disorders;  genes
Resource Type
journal article
Identifier
http://hdl.handle.net/1959.13/917364
Identifier
ISSN:0022-2593
Reviewed
Reviewed
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Subject
"Journal of Medical Genetics"
 
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