Genomics & Informatics

Korea Genome Organization (한국유전체학회)
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Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies

  • Lee, Sun Ho (Department of Diagnostic Laboratory Medicine, Chungnam National University Graduate School of Medicine) ;
  • Song, Wung Joo (Department of Genetic Counseling, Konyang University Graduate School of Public Health and Welfare)
  • Received : 2017.07.31
  • Accepted : 2017.09.01
  • Published : 2017.09.30
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Abstract

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.

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References

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