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The Clinical Utility of a SNP Microarray in Patients with Epilepsy at a Tertiary Medical Center

Hrabik, Sarah A
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1368024881

Abstract Details

2013, MS, University of Cincinnati, Medicine: Genetic Counseling.
Background: Microarray testing has revolutionized clinical cytogenetics, as it provides a significantly higher resolution and greater clinical yield than karyotype analysis. Previously, microarray studies have been performed in patients with developmental delay, intellectual disability, autism, and multiple congenital anomalies. This study assessed the clinical utility of Single Nucleotide Polymorphism (SNP) microarray in patients with epilepsy. Methods: Study subjects were patients (between the ages of birth-23 years) who were diagnosed with epilepsy and had a SNP microarray performed at Cincinnati Children's Hospital Medical Center. Chi-square test and Fisher's exact test were employed to examine the association of microarray results and the following laboratory or clinical features: brain MRI, seizure type, and functional and structural malformations. Results: One hundred and forty seven individuals met all study criteria. Of the 147 individuals studied, 17.7% (26/147) had an abnormal microarray. However, there was no difference in frequency of abnormal brain MRI or seizure type between the abnormal and normal microarray groups. Musculoskeletal malformations occurred in 38.5% of subjects with abnormal microarray results and 14.1% of subjects with a normal microarray (p<.0035). Cardiovascular malformations occurred in 30.8% of subjects with an abnormal microarray and 10.7% of subjects with normal microarray results (p<.0081). Conclusions: Brain MRI and seizure type are not helpful indicators of an abnormal microarray. Clinicians should consider SNP microarray analysis in individuals who have epilepsy in combination with musculoskeletal malformation or cardiovascular malformation.
Derek Neilson, M.D. (Committee Chair)
Valentina Pilipenko, Ph.D. (Committee Member)
Christine Spaeth, M.S., C.G.C. (Committee Member)
27 p.
Genetics
epilepsy; genetics; Single Nucleotide Polymorphism microarray;

Recommended Citations

Citations

  • Hrabik, S. A. (2013). The Clinical Utility of a SNP Microarray in Patients with Epilepsy at a Tertiary Medical Center [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1368024881

    APA Style (7th edition)

  • Hrabik, Sarah. The Clinical Utility of a SNP Microarray in Patients with Epilepsy at a Tertiary Medical Center. 2013. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1368024881.

    MLA Style (8th edition)

  • Hrabik, Sarah. "The Clinical Utility of a SNP Microarray in Patients with Epilepsy at a Tertiary Medical Center." Master's thesis, University of Cincinnati, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1368024881

    Chicago Manual of Style (17th edition)

ucin1368024881
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© 2013, all rights reserved.
This open access ETD is published by University of Cincinnati and OhioLINK.