The role of new genetic technology in investigating autism and developmental delay.

Natasha Shur, MD, Shelly Gunn MD, PhD, Lloyd Feit, MD, Albert K. Oh, MD, Yvette Yatchmink, MD, PhD, and Dianne Abuelo, MD  introdUCtion Children with developmental delay and dysmorphic features can present diagnostic and therapeutic challenges. One of the newer genetic technologies, known as chromosomal microarray, or array comparative genomic hybridization (aCGH) has revolutionized our diagnostic capabilities. We describe a patient who had global developmental delay and autistic features who did not receive a diagnosis until aCGH was obtained. Our case illustrates the way that current genetic testing may provide new information for a subset of patients with undiagnosed global delay, intellectual disability (previously termed mental retardation), and autism. To this end, we provide a brief background on the development and utilization of aCGH. Next, we discuss his particular diagnosis of 22q11 deletion syndrome as an example of the way that knowledge of a microdeletion syndrome may influence current medical management and future approaches. While 22q11 deletion syndrome is a wellknown microdeletion, many syndromes of similar consequence await further elucidation and case collection. We conclude by providing resources for physicians and families that may improve knowledge and support for those diagnosed with common and rare genetic syndromes.