The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders

Overview

Journal High Throughput

Publisher MDPI

Date 2018 Sep 19

PMID 30223503

Citations 10

Authors

Francesca Scionti

Maria Teresa Di Martino

Licia Pensabene

Valentina Bruni

Daniela Concolino

Affiliations

Soon will be listed here.

Abstract

Submicroscopic chromosomal copy number variations (CNVs), such as deletions and duplications, account for about 15⁻20% of patients affected with developmental delay, intellectual disability, multiple congenital anomalies, and autism spectrum disorder. Most of CNVs are de novo or inherited rearrangements with clinical relevance, but there are also rare inherited imbalances with unknown significance that make difficult the clinical management and genetic counselling. Chromosomal microarrays analysis (CMA) are recognized as the first-line test for CNV detection and are now routinely used in the clinical diagnostic laboratory. The recent use of CMA platforms that combine classic copy number analysis with single-nucleotide polymorphism (SNP) genotyping has increased the diagnostic yields. Here we discuss the application of the Cytoscan high-density (HD) SNP-array for the detection of CNVs. We provide an overview of molecular analyses involved in identifying pathogenic CNVs and highlight important guidelines to establish pathogenicity of CNV.

Citing Articles

Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders.

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Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype-phenotype correlations.

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