ArticleMolecular genetics & genomic medicine2020
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 6 citations in OpenAlex.
- Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy.Neurology. Genetics · 2026Article
- Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients.Journal of clinical laboratory analysis · 2022Article
- 12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.Genes · 2022Review
- 8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.Genes · 2021Article
- CNV profiles of Chinese pediatric patients with developmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.NPJ genomic medicine · 2021Article
- Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.Molecular genetics & genomic medicine · 2020Article
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40 authors at 20 institutions in 1 country.
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Abstract
backgroundChromosomal 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.
methodsThe 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.
resultsNon-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 among chromosomes, and association to known syndromes. In addition, the evaluation of the detection rate of clinical subgroups of patients allowed to associate dysmorphisms and/or congenital malformations combined with any other single clinical sign to an increased detection rate, whereas non-syndromic neurodevelopmental signs and non-syndromic congenital malformations to a decreased detection rate.
conclusionsOur retrospective study resulted in confirming the high detection rate of CMA and indicated new clinical markers useful to optimize their inclusion in the diagnostic and rehabilitative path of patients with developmental phenotypes.
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