Telomeric 22q13 Monosomy Syndrome

A developmental disorder caused by heterozygous deletion of the portion of chromosome 22 that includes the SHANK3 gene, or by mutations in SHANK3. It is characterized by neonatal HYPOTONIA, normal to accelerated growth, LANGUAGE DEVELOPMENT DISORDERS, autistic behavior, and minor dysmorphic features. OMIM: 606232.

Also Known As:

22q13 Deletion Syndrome; 22q13.3 Deletion Syndrome; Chromosome 22q13.3 Deletion Syndrome; Deletion 22q13 Syndrome; Deletion 22q13.3 Syndrome; Monosomy 22q13; Phelan-McDermid Syndrome

Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10385
  - Chromosome Aberrations: 11465
    - Aneuploidy: 9055
      - Monosomy: 442
        Chromosome Deletion: 104
        Telomeric 22q13 Monosomy Syndrome: 67
Genetic Phenomena
- Genetic Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        21-22 and Y Human Chromosomes
        Pair 22 Human Chromosomes
        Telomeric 22q13 Monosomy Syndrome: 67
- Genetic Variation
  - Mutation
    - Chromosome Aberrations: 11465
      - Aneuploidy: 9055
        Monosomy: 442
        Chromosome Deletion: 104
        Telomeric 22q13 Monosomy Syndrome: 67
    - Allelic Imbalance
      - Loss of Heterozygosity
        Chromosome Deletion: 104
        Telomeric 22q13 Monosomy Syndrome: 67
    - Sequence Deletion
      - Chromosome Deletion: 104
        Telomeric 22q13 Monosomy Syndrome: 67
- Mutagenesis
  - Sequence Deletion
    - Chromosome Deletion: 104
      - Telomeric 22q13 Monosomy Syndrome: 67
- Ploidies
  - Aneuploidy: 9055
    - Monosomy: 442
      - Chromosome Deletion: 104
        Telomeric 22q13 Monosomy Syndrome: 67
Cells
- Cellular Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        21-22 and Y Human Chromosomes
        Pair 22 Human Chromosomes
        Telomeric 22q13 Monosomy Syndrome: 67
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Chromosome Disorders: 140
    - Telomeric 22q13 Monosomy Syndrome: 67
- Inborn Genetic Diseases: 12342
  - Chromosome Disorders: 140
    - Telomeric 22q13 Monosomy Syndrome: 67

Roger Weis Selected Research

Roger Weis Research Topics

Disease

Therapy/Procedure