Chromosome 11q deletion
Chromosome 11q deletion
Chromosome 11q deletion is a genetic disorder characterized by the deletion of a portion of the long arm (q arm) of chromosome 11. This deletion can lead to a variety of developmental and health issues, depending on the size and location of the deletion.
Genetics[edit | edit source]
Chromosome 11 is one of the 23 pairs of chromosomes in humans. Each chromosome has a short arm (p arm) and a long arm (q arm). A deletion in the q arm of chromosome 11 can remove several genes, leading to a range of symptoms. The specific genes involved and the size of the deletion determine the severity and type of symptoms experienced.
Symptoms[edit | edit source]
The symptoms of chromosome 11q deletion can vary widely but may include:
- Developmental delay
- Intellectual disability
- Growth retardation
- Facial dysmorphism
- Congenital heart defects
- Hearing loss
- Seizures
Diagnosis[edit | edit source]
Diagnosis of chromosome 11q deletion typically involves genetic testing, such as karyotyping, fluorescence in situ hybridization (FISH), or comparative genomic hybridization (CGH). These tests can identify the specific deletion and help in understanding the potential impact on the individual.
Management[edit | edit source]
There is no cure for chromosome 11q deletion, and treatment focuses on managing the symptoms. This may include:
- Early intervention programs for developmental delays
- Special education services
- Speech therapy
- Physical therapy
- Occupational therapy
- Medical management of congenital heart defects and other health issues
Prognosis[edit | edit source]
The prognosis for individuals with chromosome 11q deletion varies depending on the size and location of the deletion and the severity of the symptoms. Early diagnosis and intervention can improve the quality of life for affected individuals.
Related Pages[edit | edit source]
- Chromosome
- Genetic disorder
- Karyotype
- Fluorescence in situ hybridization
- Comparative genomic hybridization
- Developmental delay
- Intellectual disability
This article is a genetic disorder stub. You can help WikiMD by expanding it!
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