monosomy 1p Chromosome 1

Deletion of a portion of the p region of Crhomosome 1. Monosomy 1p36 (OMIM: 607872) is the most common terminal deltion syndrome in humans, occuring in 1 in 5000 births. It causes severe craniofacial abnormalities and developmental disabilities, including delayed growth, CRANIOSYNOSTOSES; MICROCEPHALY; CLEFT PALATE; eye and ear defects; congenital heart defects, seizures, and intellectual disability.

Also Known As:

Chromosome 1, monosomy 1p; Deletion 1p; Monosomy 1p

Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Chromosome Aberrations: 11361
    - Aneuploidy: 8932
      - Monosomy: 435
        Chromosome Deletion: 104
        monosomy 1p Chromosome 1: 11
Genetic Phenomena
- Genetic Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        1-3 Human Chromosomes
        Pair 1 Human Chromosomes
        monosomy 1p Chromosome 1: 11
- Genetic Variation
  - Mutation
    - Chromosome Aberrations: 11361
      - Aneuploidy: 8932
        Monosomy: 435
        Chromosome Deletion: 104
        monosomy 1p Chromosome 1: 11
    - Allelic Imbalance
      - Loss of Heterozygosity
        Chromosome Deletion: 104
        monosomy 1p Chromosome 1: 11
    - Sequence Deletion
      - Chromosome Deletion: 104
        monosomy 1p Chromosome 1: 11
- Mutagenesis
  - Sequence Deletion
    - Chromosome Deletion: 104
      - monosomy 1p Chromosome 1: 11
- Ploidies
  - Aneuploidy: 8932
    - Monosomy: 435
      - Chromosome Deletion: 104
        monosomy 1p Chromosome 1: 11
Cells
- Cellular Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        1-3 Human Chromosomes
        Pair 1 Human Chromosomes
        monosomy 1p Chromosome 1: 11

I M van Zoest Selected Research

I M van Zoest Research Topics

Disease

Therapy/Procedure