{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T02:36:16Z","timestamp":1773455776309,"version":"3.50.1"},"reference-count":37,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2018,9,14]],"date-time":"2018-09-14T00:00:00Z","timestamp":1536883200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["High-Throughput"],"abstract":"<jats:p>Submicroscopic chromosomal copy number variations (CNVs), such as deletions and duplications, account for about 15\u201320% 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.<\/jats:p>","DOI":"10.3390\/ht7030028","type":"journal-article","created":{"date-parts":[[2018,9,14]],"date-time":"2018-09-14T10:57:59Z","timestamp":1536922679000},"page":"28","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders"],"prefix":"10.3390","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8149-7957","authenticated-orcid":false,"given":"Francesca","family":"Scionti","sequence":"first","affiliation":[{"name":"Department of Experimental and Clinical Medicine, Magna Graecia University, Salvatore Venuta Campus, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa","family":"Di Martino","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, Magna Graecia University, Salvatore Venuta Campus, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Licia","family":"Pensabene","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, Pediatric Unit, Magna Graecia University, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Bruni","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, Pediatric Unit, Magna Graecia University, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1223-7358","authenticated-orcid":false,"given":"Daniela","family":"Concolino","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, Pediatric Unit, Magna Graecia University, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2018,9,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1038\/nrg3871","article-title":"A copy number variation map of the human genome","volume":"16","author":"Zarrei","year":"2015","journal-title":"Nat. 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