16p11.2 Deletion Syndrome

Microdeletions of approximately 550-600 kilobases in the region of chromosome 16p11.2. Deletions may occur in about 1% of patients with autism spectrum disorder, and are also associated with early-onset obesity, intellectual disability, and congenital abnormalities. OMIM: 611913

Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - 16p11.2 Deletion Syndrome: 6
  - Pervasive Child Development Disorders: 8
    - Autism Spectrum Disorder: 6374
      - Autistic Disorder: 8548
        16p11.2 Deletion Syndrome: 6
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Chromosome Aberrations: 11361
    - Aneuploidy: 8932
      - Monosomy: 435
        Chromosome Deletion: 104
        16p11.2 Deletion Syndrome: 6
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        16p11.2 Deletion Syndrome: 6
Genetic Phenomena
- Genetic Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        16-18 Human Chromosomes
        Pair 16 Human Chromosomes
        16p11.2 Deletion Syndrome: 6
- Genetic Variation
  - Mutation
    - Chromosome Aberrations: 11361
      - Aneuploidy: 8932
        Monosomy: 435
        Chromosome Deletion: 104
        16p11.2 Deletion Syndrome: 6
    - Allelic Imbalance
      - Loss of Heterozygosity
        Chromosome Deletion: 104
        16p11.2 Deletion Syndrome: 6
    - Sequence Deletion
      - Chromosome Deletion: 104
        16p11.2 Deletion Syndrome: 6
- Mutagenesis
  - Sequence Deletion
    - Chromosome Deletion: 104
      - 16p11.2 Deletion Syndrome: 6
- Ploidies
  - Aneuploidy: 8932
    - Monosomy: 435
      - Chromosome Deletion: 104
        16p11.2 Deletion Syndrome: 6
Cells
- Cellular Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        16-18 Human Chromosomes
        Pair 16 Human Chromosomes
        16p11.2 Deletion Syndrome: 6
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - 16p11.2 Deletion Syndrome: 6
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - 16p11.2 Deletion Syndrome: 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Chromosome Disorders: 136
    - 16p11.2 Deletion Syndrome: 6
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - 16p11.2 Deletion Syndrome: 6

Pair 16 Human Chromosomes

Context: Research Results