Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies
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 disor...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BioMed Central
2017-09-01
|
| Series: | Genomics & Informatics |
| Subjects: | |
| Online Access: | http://genominfo.org/upload/pdf/gi-2017-15-3-82.pdf |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832573683319701504 |
|---|---|
| author | Sun Ho Lee Wung Joo Song |
| author_facet | Sun Ho Lee Wung Joo Song |
| author_sort | Sun Ho Lee |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-35e8d111a5e648a2864d6801281c3649 |
| institution | Kabale University |
| issn | 2234-0742 |
| language | English |
| publishDate | 2017-09-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-35e8d111a5e648a2864d6801281c36492025-02-02T03:16:32ZengBioMed CentralGenomics & Informatics2234-07422017-09-01153828610.5808/GI.2017.15.3.82488Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital AnomaliesSun Ho Lee0Wung Joo Song1 Department of Diagnostic Laboratory Medicine, Chungnam National University Graduate School of Medicine, Daejeon 35015, Korea Department of Genetic Counseling, Konyang University Graduate School of Public Health and Welfare, Daejeon 35365, KoreaChromosomal 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.http://genominfo.org/upload/pdf/gi-2017-15-3-82.pdfautism spectrum disorderchromosomal microarraydevelopmental delayintellectual disabilitymultiple congenital anomalies |
| spellingShingle | Sun Ho Lee Wung Joo Song Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies Genomics & Informatics autism spectrum disorder chromosomal microarray developmental delay intellectual disability multiple congenital anomalies |
| title | Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies |
| title_full | Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies |
| title_fullStr | Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies |
| title_full_unstemmed | Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies |
| title_short | Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies |
| title_sort | chromosomal microarray testing in 42 korean patients with unexplained developmental delay intellectual disability autism spectrum disorders and multiple congenital anomalies |
| topic | autism spectrum disorder chromosomal microarray developmental delay intellectual disability multiple congenital anomalies |
| url | http://genominfo.org/upload/pdf/gi-2017-15-3-82.pdf |
| work_keys_str_mv | AT sunholee chromosomalmicroarraytestingin42koreanpatientswithunexplaineddevelopmentaldelayintellectualdisabilityautismspectrumdisordersandmultiplecongenitalanomalies AT wungjoosong chromosomalmicroarraytestingin42koreanpatientswithunexplaineddevelopmentaldelayintellectualdisabilityautismspectrumdisordersandmultiplecongenitalanomalies |