{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:22:00Z","timestamp":1787775720922,"version":"build-2784847793"},"reference-count":16,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Cytogenetic microarray (CMA) has brought a revolution in the field of cytogenetics by improving resolution by 500 times that of traditional karyotyping. Analysis and interpretation of whole genome copy number variations (CNVs) is quite a challenging task for clinicians. Some software packages and databases are available which are based on algorithm. However, there is no clear rule to decide the pathogenicity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>To formulate a step-wise approach to evaluate the interpretation of a CNV and to help the clinicians to interpret the CNV reported by a laboratory with help of four representative cases of different phenotypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and Material:<\/jats:title>\n                    <jats:p>CMA was done using AffymetrixCytoscan 750K array in four cases from different families. Analysis was done based on the proposed approach.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The prediction of the effect of these CNVs depends on multiple factors and can change over time as the databases are expanded. CMA in four cases from different families revealed, a rare co-occurrence of 22q13.3 duplication and 22q13.3 deletion in a proband, a deletion along with mosaicism on 10q21.2 and 10p15.3, respectively, in the second case. Third case resulted in one variant of unknown significance of 1.2 Kb deletion on 10q11.22 and the fourth case showed a benign CNV. All CNVs were analyzed based on the proposed approach and helped in subsequent management and counselling of the families. The results indicate the effectiveness of a principled, feature-based, statistical framework for uncharacterized CNV interpretation, which future studies can expand upon to construct more reliable classifiers.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0028-3886.338651","type":"journal-article","created":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T00:38:10Z","timestamp":1708475890000},"page":"148-154","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["How Experts Make a Call"],"prefix":"10.4103","volume":"70","author":[{"given":"Priyanka","family":"Srivastava","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chakshu","family":"Chaudhry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-24-20240907","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1016\/j.gde.2007.04.009","article-title":"Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation","volume":"17","author":"Stankiewicz","year":"2007","journal-title":"Curr Opin Genet Dev"},{"key":"R2-24-20240907","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am J Hum Genet"},{"key":"R3-24-20240907","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/s12864-016-2374-2","article-title":"cnvScan: A CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data","volume":"17","author":"Samarakoon","year":"2016","journal-title":"BMC Genomics"},{"key":"R4-24-20240907","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1097\/GIM.0b013e3182217a3a","article-title":"Working group of the american college of medical genetics laboratory quality assurance committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants","volume":"13","author":"Kearney","year":"2011","journal-title":"Genet Med"},{"key":"R5-24-20240907","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","article-title":"Technical standards for the interpretation and reporting of constitutional copy-number variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"22","author":"Riggs","year":"2020","journal-title":"Genet Med"},{"key":"R6-24-20240907","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1097\/GIM.0b013e3181c0c3b0","article-title":"Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories","volume":"11","author":"Tsuchiya","year":"2009","journal-title":"Genet Med"},{"key":"R7-24-20240907","doi-asserted-by":"crossref","first-page":"1764","DOI":"10.1002\/ajmg.a.33426","article-title":"A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect","volume":"152","author":"Bateman","year":"2010","journal-title":"Am J Med Genet A"},{"key":"R8-24-20240907","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1002\/ajmg.b.31071","article-title":"Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C","volume":"153","author":"Nowakowska","year":"2010","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"R9-24-20240907","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1038\/s41431-018-0124-4","article-title":"Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance","volume":"26","author":"Egloff","year":"2018","journal-title":"Eur J Hum Genet"},{"key":"R10-24-20240907","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1007\/s12041-018-1050-5","article-title":"Cytogenetic microarray in structurally normal and abnormal foetuses: A five year experience elucidating increasing acceptance and clinical utility","volume":"98","author":"Lallar","year":"2019","journal-title":"J Genet"},{"key":"R11-24-20240907","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1038\/gim.2013.129","article-title":"ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: Revision 2013","volume":"15","author":"South","year":"2013","journal-title":"Genet Med"},{"key":"R12-24-20240907","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1097\/00019605-200504000-00001","article-title":"Further delineation of the 22q13 deletion syndrome","volume":"14","author":"Lindquist","year":"2005","journal-title":"Clin Dysmorphol"},{"key":"R13-24-20240907","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1038\/sj.ejhg.5201456","article-title":"Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation","volume":"13","author":"Koolen","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"R15-24-20240907","doi-asserted-by":"crossref","first-page":"93","DOI":"10.2147\/TACG.S35799","article-title":"Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH","volume":"5","author":"Ochando","year":"2012","journal-title":"Appl Clin Genet"},{"key":"R16-24-20240907","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s13039-019-0430-8","article-title":"Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: A case report and review of the literature","volume":"12","author":"Herriges","year":"2019","journal-title":"Mol Cytogenet"},{"key":"R17-24-20240907","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1111\/cge.12242","article-title":"Pathogenic or not? Assessing the clinical relevance of copy number variants","volume":"84","author":"Hehir-Kwa","year":"2013","journal-title":"Clin Genet"}],"container-title":["Neurology India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.338651","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:40:28Z","timestamp":1787773228000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.338651"}},"subtitle":["Copy Number Variation Analysis in Unusual\/Rare Case Scenarios"],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/0028-3886.338651","relation":{},"ISSN":["0028-3886"],"issn-type":[{"value":"0028-3886","type":"print"}],"subject":[],"published":{"date-parts":[[2022,1]]}}}