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High-Throughput 2018, 7(3), 28; https://doi.org/10.3390/ht7030028

The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders

1
Department of Experimental and Clinical Medicine, Magna Graecia University, Salvatore Venuta Campus, 88100 Catanzaro, Italy
2
Department of Medical and Surgical Sciences, Pediatric Unit, Magna Graecia University, 88100 Catanzaro, Italy
*
Author to whom correspondence should be addressed.
Received: 30 July 2018 / Revised: 6 September 2018 / Accepted: 6 September 2018 / Published: 14 September 2018
(This article belongs to the Special Issue Applications of Microarrays in Diagnostics)
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Abstract

Submicroscopic chromosomal copy number variations (CNVs), such as deletions and duplications, account for about 15–20% of patients affected with developmental delay, intellectual disability, multiple congenital anomalies, and autism spectrum disorder. Most of CNVs are de novo or inherited rearrangements with clinical relevance, but there are also rare inherited imbalances with unknown significance that make difficult the clinical management and genetic counselling. Chromosomal microarrays analysis (CMA) are recognized as the first-line test for CNV detection and are now routinely used in the clinical diagnostic laboratory. The recent use of CMA platforms that combine classic copy number analysis with single-nucleotide polymorphism (SNP) genotyping has increased the diagnostic yields. Here we discuss the application of the Cytoscan high-density (HD) SNP-array for the detection of CNVs. We provide an overview of molecular analyses involved in identifying pathogenic CNVs and highlight important guidelines to establish pathogenicity of CNV. View Full-Text
Keywords: copy number variations; SNP-array; neurodevelopmental disorders copy number variations; SNP-array; neurodevelopmental disorders
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Scionti, F.; Di Martino, M.T.; Pensabene, L.; Bruni, V.; Concolino, D. The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders. High-Throughput 2018, 7, 28.

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