Chromosome 1p36 Deletion Syndrome

A disorder that results from deletion of chromosome 1p36 region. It is characterized by multiple congenital craniofacial and skeletal abnormalities, HEART SEPTAL DEFECTS; HYPOTHYROIDISM; seizures, and severe neuordevelopmental and intellectual disability. It is the most common terminal deletion syndrome, occurring in 1 in 5,000 births. OMIM: 607872

Also Known As:

1p36 deletion syndrome; 1p36.33 deletion; Chromosome 1, 1p36 deletion syndrome; Deletion 1p36.33; Monosomy 1p36 syndrome

Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Chromosome Aberrations: 11361
    - Aneuploidy: 8932
      - Monosomy: 435
        Chromosome Deletion: 104
        Chromosome 1p36 Deletion Syndrome: 13
Genetic Phenomena
- Genetic Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        1-3 Human Chromosomes
        Pair 1 Human Chromosomes
        Chromosome 1p36 Deletion Syndrome: 13
- Genetic Variation
  - Mutation
    - Chromosome Aberrations: 11361
      - Aneuploidy: 8932
        Monosomy: 435
        Chromosome Deletion: 104
        Chromosome 1p36 Deletion Syndrome: 13
    - Allelic Imbalance
      - Loss of Heterozygosity
        Chromosome Deletion: 104
        Chromosome 1p36 Deletion Syndrome: 13
    - Sequence Deletion
      - Chromosome Deletion: 104
        Chromosome 1p36 Deletion Syndrome: 13
- Mutagenesis
  - Sequence Deletion
    - Chromosome Deletion: 104
      - Chromosome 1p36 Deletion Syndrome: 13
- Ploidies
  - Aneuploidy: 8932
    - Monosomy: 435
      - Chromosome Deletion: 104
        Chromosome 1p36 Deletion Syndrome: 13
Cells
- Cellular Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        1-3 Human Chromosomes
        Pair 1 Human Chromosomes
        Chromosome 1p36 Deletion Syndrome: 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Chromosome Disorders: 136
    - Chromosome 1p36 Deletion Syndrome: 13
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Chromosome 1p36 Deletion Syndrome: 13

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