Potocki-Shaffer syndrome

Also Known As:

Chromosome 11p11.2 Deletion Syndrome; Defect11 Syndrome; Deletion of chromosome 11p11.2; Exostoses, Multiple, Type II; P11PDS; Proximal 11P deletion syndrome

Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Chromosome Aberrations: 11361
    - Aneuploidy: 8932
      - Monosomy: 435
        Chromosome Deletion: 104
        Potocki-Shaffer syndrome: 4
Genetic Phenomena
- Genetic Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        6-12 and X Human Chromosomes
        Pair 11 Human Chromosomes
        Potocki-Shaffer syndrome: 4
- Genetic Variation
  - Mutation
    - Chromosome Aberrations: 11361
      - Aneuploidy: 8932
        Monosomy: 435
        Chromosome Deletion: 104
        Potocki-Shaffer syndrome: 4
    - Allelic Imbalance
      - Loss of Heterozygosity
        Chromosome Deletion: 104
        Potocki-Shaffer syndrome: 4
    - Sequence Deletion
      - Chromosome Deletion: 104
        Potocki-Shaffer syndrome: 4
- Mutagenesis
  - Sequence Deletion
    - Chromosome Deletion: 104
      - Potocki-Shaffer syndrome: 4
- Ploidies
  - Aneuploidy: 8932
    - Monosomy: 435
      - Chromosome Deletion: 104
        Potocki-Shaffer syndrome: 4
Cells
- Cellular Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        6-12 and X Human Chromosomes
        Pair 11 Human Chromosomes
        Potocki-Shaffer syndrome: 4
Neoplasms: 1324753
- Hereditary Neoplastic Syndromes: 112
  - Multiple Hereditary Exostoses: 172
    - Potocki-Shaffer syndrome: 4
- Neoplasms by Histologic Type: 2
  - Connective and Soft Tissue Neoplasms: 1
    - Connective Tissue Neoplasms: 9
      - Bone Tissue Neoplasms: 1
        Osteochondroma: 292
        Osteochondromatosis: 17
        Multiple Hereditary Exostoses: 172
        Potocki-Shaffer syndrome: 4
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Hyperostosis: 347
    - Exostoses: 262
      - Multiple Hereditary Exostoses: 172
        Potocki-Shaffer syndrome: 4
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Osteochondroma: 292
        Osteochondromatosis: 17
        Multiple Hereditary Exostoses: 172
        Potocki-Shaffer syndrome: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Chromosome Disorders: 136
    - Potocki-Shaffer syndrome: 4
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Potocki-Shaffer syndrome: 4
  - Hereditary Neoplastic Syndromes: 112
    - Multiple Hereditary Exostoses: 172
      - Potocki-Shaffer syndrome: 4

S M Sugayama Selected Research

S M Sugayama Research Topics

Disease

Drug/Important Bio-Agent (IBA)