Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders …

Evidence Report: Genetic and metabolic testing on children with global developmental delay
[RETIRED] Page 1 Evidence Report: Genetic and metabolic testing on children with global …

The clinical implementation of array comparative genomic hybridization has revolutionized
the diagnosis of patients with syndromic or nonsyndromic mental retardation. Multiple …

Background: Genomic disorders are often caused by non-allelic homologous recombination
between segmental duplications. Chromosome 16 is especially rich in a chromosome …

Anomalies of chromosome number and structure are considered to be the most frequent
cause of unexplained, non-syndromic developmental delay and mental retardation …

Common neurodevelopmental disorders (including autism, speech and language delay,
schizophrenia, epilepsy and intellectual disability) have complex aetiology, which is …

Structural genetic changes, especially copy number variants (CNVs), represent a major
source of genetic variation contributing to human disease. Tetralogy of Fallot (TOF) is the …

Objective Array comparative genomic hybridization (aCGH) is a molecular cytogenetic
technique that is able to detect the presence of copy number variants (CNVs) within the …

Objective To evaluate the use of array comparative genomic hybridization (aCGH) for
prenatal diagnosis, including assessment of variants of uncertain significance, and the …

Microarray‐based copy number analysis has found its way into routine clinical practice,
predominantly for the diagnosis of patients with unexplained mental retardation. However …