Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research

2011 ◽  
Vol 135 (3-4) ◽  
pp. 174-202 ◽  
Author(s):  
R. Hochstenbach ◽  
J.E. Buizer-Voskamp ◽  
J.A.S. Vorstman ◽  
R.A. Ophoff
Keyword(s):  
Mental Retardation ◽  
Copy Number ◽  
Neuropsychiatric Disorders ◽  
Copy Number Variations ◽  
Idiopathic Generalized Epilepsy ◽  
Generalized Epilepsy ◽  
Idiopathic Mental Retardation

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation

2011 ◽  
Vol 155 (2) ◽  
pp. 343-348 ◽  
Author(s):  
Liesbeth Rooms ◽  
Geert Vandeweyer ◽  
Edwin Reyniers ◽  
Kurt van Mol ◽  
Ilse de Canck ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Copy Number ◽  
Copy Number Variations ◽  
Idiopathic Mental Retardation

scholarly journals Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation

2007 ◽  
Vol 81 (4) ◽  
pp. 768-779 ◽  
Author(s):  
Janine Wagenstaller ◽  
Stephanie Spranger ◽  
Bettina Lorenz-Depiereux ◽  
Bernd Kazmierczak ◽  
Michaela Nathrath ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Mental Retardation ◽  
Copy Number ◽  
Copy Number Variations ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Oligonucleotide Arrays

scholarly journals Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders

2021 ◽  
Vol 22 (11) ◽  
pp. 5811
Author(s):  
Joy Yoon ◽  
Yingwei Mao
Keyword(s):  
Copy Number ◽  
Association Studies ◽  
Molecular Genetic ◽  
Neuropsychiatric Disorders ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Genetic Mechanisms

Pathogenic copy number variations (CNVs) contribute to the etiology of neurodevelopmental/neuropsychiatric disorders (NDs). Increased CNV burden has been found to be critically involved in NDs compared with controls in clinical studies. The 1q21.1 CNVs, rare and large chromosomal microduplications and microdeletions, are detected in many patients with NDs. Phenotypes of duplication and deletion appear at the two ends of the spectrum. Microdeletions are predominant in individuals with schizophrenia (SCZ) and microcephaly, whereas microduplications are predominant in individuals with autism spectrum disorder (ASD) and macrocephaly. However, its complexity hinders the discovery of molecular pathways and phenotypic networks. In this review, we summarize the recent genome-wide association studies (GWASs) that have identified candidate genes positively correlated with 1q21.1 CNVs, which are likely to contribute to abnormal phenotypes in carriers. We discuss the clinical data implicated in the 1q21.1 genetic structure that is strongly associated with neurodevelopmental dysfunctions like cognitive impairment and reduced synaptic plasticity. We further present variations reported in the phenotypic severity, genomic penetrance and inheritance.

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

2010 ◽  
Vol 53 (2) ◽  
pp. 66-75 ◽  
Author(s):  
Sylvie Jaillard ◽  
Séverine Drunat ◽  
Claude Bendavid ◽  
Azzedine Aboura ◽  
Amandine Etcheverry ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Copy Number ◽  
Array Cgh ◽  
Gene Copy Number ◽  
Copy Number Variations ◽  
Gene Copy
Sign in / Sign up

Export Citation Format

Share Document