biostudies-literatureCatusi IMinistero della SaluteIstituto Auxologico Italianoe1056https://www.ebi.ac.uk/biostudies/studies/S-EPMC6978242biostudies-literatureUnknown8(1)<h4>Background</h4>Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there is no ascertained evidence to date on how to assemble single/combined clinical categories of developmental phenotypic findings to improve the array-based detection rate.<h4>Methods</h4>The Italian Society of Human Genetics coordinated a retrospective study which included CMA results of 5,110 Italian patients referred to 17 genetics laboratories for variable combined clinical phenotypes.<h4>Results</h4>Non-polymorphic copy number variants (CNVs) were identified in 1512 patients (30%) and 615 (32%) present in 552 patients (11%) were classified as pathogenic. CNVs were analysed according to type, size, inheritance pattern, distribution amMolecular genetics & genomic medicineTesting single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.PMC6978242Ricerca Corrente 08C723_2017‐2019Ricerca corrente 08C922_2019Nardone AMRecalcati MPAlghisi AGiagnacovo MZilio ATonelli MLarizza LCeglia CBestetti ICeccarini CCappellani SMarseglia GRenieri ARedaelli SValtorta CD'Aprile AZuccarello DAlfonsi MCoviello DFabretto ACasalone RCiaschini AMNovelli ATiberi FCrosti FMontaldi AGenesio RPalka CCaselli RPostorivo DPessina CVilla NGiardino DPecile VMalacarne MGranata PRigon CGarzo MCatusi ILongo IfalseTesting single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.<h4>Background</h4>Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there is no ascertained evidence to date on how to assemble single/combined clinical categories of developmental phenotypic findings to improve the array-based detection rate.<h4>Methods</h4>The Italian Society of Human Genetics coordinated a retrospective study which included CMA results of 5,110 Italian patients referred to 17 genetics laboratories for variable combined clinical phenotypes.<h4>Results</h4>Non-polymorphic copy number variants (CNVs) were identified in 1512 patients (30%) and 615 (32%) present in 552 patients (11%) were classified as pathogenic. CNVs were analysed according to type, size, inheritance pattern, distribution am2020-01-01T00:00:00Z2020 Jan2025-04-05T00:43:19.489Z2021-02-20T07:27:50ZS-EPMC69782423185178210.1002/mgg3.1056