The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral Pediatrics
Copyright policy )The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral Pediatrics
Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities. CMA includes array comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays, both of which are useful for detection of genomic copy number variants (CNV) such as microdeletions and microduplications. The frequency of disease‐causing CNVs is highest (20%–25%) in children with moderate to severe intellectual disability accompanied by malformations or dysmorphic features. Disease‐causing CNVs are found in 5%–10% of cases of autism, being more frequent in severe phenotypes. CMA has replaced Giemsa‐banded karyotype as the first‐tier test for genetic evaluation of children with developmental and behavioral disabilities.
- Baylor College of Medicine United States
Chromosome Aberrations, Male, Epilepsy, Learning Disabilities, Mood Disorders, Developmental Disabilities, Child Behavior Disorders, Microarray Analysis, Polymorphism, Single Nucleotide, Aggression, Attention Deficit Disorder with Hyperactivity, Intellectual Disability, Schizophrenia, Humans, Ethics, Medical, Female, Autistic Disorder, Child, Tourette Syndrome
Chromosome Aberrations, Male, Epilepsy, Learning Disabilities, Mood Disorders, Developmental Disabilities, Child Behavior Disorders, Microarray Analysis, Polymorphism, Single Nucleotide, Aggression, Attention Deficit Disorder with Hyperactivity, Intellectual Disability, Schizophrenia, Humans, Ethics, Medical, Female, Autistic Disorder, Child, Tourette Syndrome
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).67 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!