Abstract Background 22q11. 2 deletion syndrome (22q11DS), a copy number variation
(CNV) disorder, occurs in approximately 1: 4000 live births due to a heterozygous …

Neurodevelopmental and late-onset neurodegenerative disorders present as separate
entities that are clinically and neuropathologically quite distinct. However, recent evidence …

Thalamic dysfunction has been implicated in multiple psychiatric disorders. We sought to
study the mechanisms by which abnormalities emerge in the context of the 22q11. 2 …

Congenital heart disease (CHD) is the most common birth anomaly, affecting almost 1% of
infants. Neurodevelopmental delay is the most common extracardiac feature in people with …

The diagnosis of schizophrenia rests on clinical criteria that cannot be assessed in animal
models. Together with absence of a clear underlying pathology and understanding of what …

Autism spectrum disorder (ASD) is a genetic heterogeneous neurodevelopmental disorder
that is characterized by impairments in social interaction and speech development and is …

The 22q11 deletion syndrome (DS) is the most common microdeletion syndrome in humans
and gives a high probability of developing psychiatric disorders. Synaptic and neuronal …

Abstract Duplications in the 22q11. 2 region can cause 22q11. 2 duplication syndrome and
encompass a variety of phenotypes including developmental delays, facial abnormalities …

Abstract Background Chromosome 22q11. 2 is susceptible to genomic rearrangements and
the most frequently reported involve deletions and duplications between low copy repeats …

Objectives To evaluate the yield and utility of the routine use of chromosomal microarray
analysis (CMA) for prenatal genetic diagnosis in a large cohort of pregnancies with normal …