Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.

ABSTRACT:

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 am

SUBMITTER: Catusi I 

PROVIDER: S-EPMC6978242 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature