trisomy 5q Chromosome 5

A chromosomal abnormality characterized by an extra copy or duplication of the long (Q) arm of chromosome 5. Severity of symptoms depend on the size and location of the duplication and which genes are involved. Affected individuals may experience developmental delay, intellectual disability, behavioral problems, and have distinct facial features (FACIES).

Also Known As:

Chromosome 5, trisomy 5q; Duplication 5q; Trisomy 5q

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Context: Research Results

Cells
- Cellular Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        4-5 Human Chromosomes
        Pair 5 Human Chromosomes
        trisomy 5q Chromosome 5
Genetic Phenomena
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Cri-du-Chat Syndrome: 101
        trisomy 5q Chromosome 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Cri-du-Chat Syndrome: 101
      - trisomy 5q Chromosome 5
  - Chromosome Disorders: 136
    - Cri-du-Chat Syndrome: 101
      - trisomy 5q Chromosome 5
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Cri-du-Chat Syndrome: 101
      - trisomy 5q Chromosome 5
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Chromosome Aberrations: 11361
    - Aneuploidy: 8932
      - Trisomy: 1642
        trisomy 5q Chromosome 5
    - Chromosome Duplication: 167
      - Trisomy: 1642
        trisomy 5q Chromosome 5