Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
Autor: | Karen S. Ho, Edward Robert Wassman, Hope Twede, Megan M. Martin, Rena Vanzo, Merlin G. Butler, Charles Hensel, Aparna Prasad, Adrianne L. Baxter |
---|---|
Rok vydání: | 2016 |
Předmět: |
Male
0301 basic medicine Pediatrics Microarray Developmental Disabilities Bioinformatics FirstStepDx PLUS lcsh:Chemistry chromosomal microarray Intellectual disability Chromosomes Human Copy-number variation Child lcsh:QH301-705.5 variants of unknown significance health care economics and organizations Spectroscopy neurodevelopmental disorders General Medicine Ultra high resolution humanities Computer Science Applications Autism spectrum disorder Female medicine.medical_specialty DNA Copy Number Variations autism spectrum disorder Biology Article copy number variants Catalysis Inorganic Chemistry 03 medical and health sciences mental disorders medicine Humans Physical and Theoretical Chemistry Molecular Biology Chromosome Aberrations Microarray analysis techniques Organic Chemistry Microarray Analysis medicine.disease 030104 developmental biology lcsh:Biology (General) lcsh:QD1-999 Karyotyping Etiology Autism |
Zdroj: | International Journal of Molecular Sciences, Vol 17, Iss 12, p 2070 (2016) International Journal of Molecular Sciences; Volume 17; Issue 12; Pages: 2070 International Journal of Molecular Sciences |
ISSN: | 1422-0067 |
DOI: | 10.3390/ijms17122070 |
Popis: | Copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and other related conditions. In recognition of the value of CMA testing and its impact on medical management, CMA is in medical guidelines as a first-tier test in the evaluation of children with these disorders. As CMA becomes adopted into routine care for these patients, it becomes increasingly important to report these clinical findings. This study summarizes the results of over 4 years of CMA testing by a CLIA-certified clinical testing laboratory. Using a 2.8 million probe microarray optimized for the detection of CNVs associated with neurodevelopmental disorders, we report an overall CNV detection rate of 28.1% in 10,351 consecutive patients, which rises to nearly 33% in cases without ASD, with only developmental delay/intellectual disability (DD/ID) and/or multiple congenital anomalies (MCA). The overall detection rate for individuals with ASD is also significant at 24.4%. The detection rate and pathogenic yield of CMA vary significantly with the indications for testing, age, and gender, as well as the specialty of the ordering doctor. We note discrete differences in the most common recurrent CNVs found in individuals with or without a diagnosis of ASD. |
Databáze: | OpenAIRE |
Externí odkaz: |