Refining the 3q29 Deletion Syndrome Region: Four Case Studies

2012

Warren Sanger
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402-559-6328

Chromosome 3q29 deletion syndrome is characterized by a 1.6 Mb interstitial deletion within band 3q29 and is associated with mild to moderate intellectual disability and minor, but similar, dysmorphic features. Autism is reported in approximately one third of 3q29 deletion syndrome cases. A variety of other clinical findings have been reported in 3q29 deletion syndrome but no genes have been associated with a specific phenotypic abnormality. Depending on the array platform and documented linear locations, there are minor variations in the deletion interval; however, the reported classic deletion interval of 3q29 deletion syndrome contains approximately 28 genes including 13 OMIM genes and 15 non-OMIM genes. We report four cases of 3q29 deletion syndrome that were initially referred for microarray studies with an indication of developmental delays, including mild mental retardation.

Conference presentations and posters presented

Professionals, Policymakers, Students

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