Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate
| Autor: | Serena Redaelli, Annamaria Montaldi, Francesca Crosti, Marzia Giagnacovo, Maria Paola Recalcati, Chiara Palka, Carlo Ceglia, Lidia Larizza, Caterina Ceccarini, Chiara Rigon, Anna Maria Nardone, Antonio Novelli, Domenico Coviello, Stefania Cappellani, Alessandra Renieri, Anna Maria Ciaschini, Alberta Alghisi, Ilaria Catusi, Daniela Zuccarello, Vanna Pecile, Mariella Tonelli, Paola Granata, Ilaria Bestetti, Ilaria Longo, Giuseppina Marseglia, Nicoletta Villa, Chiara Pessina, Michela Malacarne, Fabiola Tiberi, Chiara Valtorta, Melissa Alfonsi, Anna Zilio, Maria Garzo, Rossella Caselli, Annamaria D'Aprile, Daniela Giardino, Rosario Casalone, Diana Postorivo, Rita Genesio, Antonella Fabretto |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
detection rate medicine.medical_specialty lcsh:QH426-470 DNA Copy Number Variations Developmental Disabilities Genetics Medical 030105 genetics & heredity Sensitivity and Specificity Chromosomal microarray analysis (CMA) pathogenic CNV 03 medical and health sciences clinical marker identification Internal medicine Genetics medicine Humans Genetic Testing Copy-number variation Molecular Biology Societies Medical Genetics (clinical) Oligonucleotide Array Sequence Analysis Chromosome Aberrations business.industry Microarray analysis techniques Retrospective cohort study Congenital malformations Original Articles Phenotype Human genetics lcsh:Genetics 030104 developmental biology Italy Practice Guidelines as Topic Original Article Detection rate business |
| Zdroj: | Molecular Genetics & Genomic Medicine Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020) |
| ISSN: | 2324-9269 |
| Popis: | Background 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. Methods 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. Results 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 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. Conclusions Our 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. This study provides a retrospective study coordinated by the Italian Society of Human Genetics (SIGU) of 5,110 patients referred to CMA for variable combined clinical phenotypes, collected by 17 Italian laboratories. The data extrapolated by the present cohort are compared to those of previously reported studies. In addition, the detection rate of single/combined clinical categories of patients sorted out from the overall cohort is evaluated to correctly assess the inclusion of the CMA in the diagnostic path of patients with the developmental clinical phenotypes. |
| Databáze: | OpenAIRE |
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