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Bria Woods

Cracking the Code: Next Steps in Diagnosing Autism Disorders in Persons with Chromosome 18 Differences

Bria Woods

Mentor: Dr. Louise O'Donnell

A chromosome abnormality is a change in the number or the arrangement of the chromosome. When a piece of the chromosome is missing, it is called a deletion. The 18q- syndrome is characterized by loss of chromosomal material from the long arm of Chromosome 18. Most often caused by terminal deletion of long arm of chromosome 18. The syndrome is fairly common occurs roughly 1 in 40,000 births; diagnosis confirmed cytogenetically. Normal Chromosome 18 and examples of deletion. Duplication occurs when a piece of the chromosome is copied. Duplication of the 18th Chromosome in Individuals with 18q- may have cognitive delay, though the degree of impairment varies dependent upon size and location of the deletion (Semrud-Clikeman, et al., 2005). The purpose of this study was to evaluate the frequency of autism in a sample of children with 18q- terminal deletions. Autism is defined as showing impairment in social interaction and communication and having restricted repetitive patterns of behavior.

Collaborators: B.T. Sioleau, D.E. Hale and J.D. Cody