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Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

2009; BMJ; Volume: 46; Issue: 7 Linguagem: Inglês

10.1136/jmg.2008.065391

1468-6244

Tiong Yang Tan, Salim Aftimos, Lisa Worgan, Rachel Susman, Michael D. Wilson, Sondhya Ghedia, Edwin P. Kirk, Donald R. Love, Anne Ronan, Artur Darmanian, Anne Slavotinek, Jacob S. Hogue, John B. Moeschler, Jillian R. Ozmore, Richard P Widmer, Ravi Savarirayan, Gregory B. Peters,

Genetics and Neurodevelopmental Disorders

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.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.These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.