Digitized Honors Theses (2002-2017)

Date of Award

5-2012

Document Type

Undergraduate Thesis

Degree Name

BS

Department

Biomedical Sciences

Faculty Mentor

Hanes Swingle

Abstract

Microarray comparative genomic hybridization (CGH) is a new technology that identifies chromosomal copy number variants (insertions, deletions and/or duplications) not visible by tradition..al karyotyping. Many of the copy number variants being identified by this technology have not been reported to be associated with human disease, and some are found in unaffected individuals, making their clinical significance uncertain. We hypothesized that children with autism or other developmental disabilities who have microdeletions or duplications of unknown significance will manifest more craniofacial dysmorphism and have lower cognitive scores than children from the same clinic population who have normal microarrays. Children who had completed their diagnostic evaluation, had a microarray CGH analysis and a clinic facial photograph were eligible for the study. Subjects with microdeletions/duplications not previously reported in literature were compared with those who had microdeletions/duplications known to be associated with developmental or behavioral disorders and with subjects who had normal microarrays with regard to growth parameters, cognitive scores, Autism Diagnostic Observation Schedule (ADOS) scores, and craniofacial dysmorphism. Statistical analysis was conducted using Pearson chi-square, Student t-test, and ANOVA. The children with and without genomic imbalances did not differ in age, sex, growth parameters, parental age or education level, insurance level, cognitive or language scores. Microdeletions/duplications not previously reported to be associated with human disease were strongly associated with craniofacial dysmorphism at rates similar to chromosomal abnormalities known to result in developmental disorders. Our findings provide presumptive evidence that these previously unreported microdeletions and duplications have clinical significance.

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