Article
Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children.
Psychiatric genetics - 1 Oct 2020
Fetit Rana, Price David J, Lawrie Stephen M, Johnstone Mandy
Abstract excerpt
BACKGROUND: Copy number variants (CNVs) are genetic rearrangements, such as deletions and duplications, which result in a deviation from the normal number of copies of a given gene segment. CNVs are implicated in many neuropsychiatric disorders. Deletions of the human chromosomal region 16p11.2 are one of the most common genetic linkages to autism spectrum disorders (ASD). However, ASD is not the only presenting...
Topics
- Autism Spectrum Disorder
- Autistic Disorder
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 16
- DNA Copy Number Variations
- Female
- Humans
- Intellectual Disability