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

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

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

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

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

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

• Chromosome
• Genetic disorder
• Karyotype
• Fluorescence in situ hybridization
• Comparative genomic hybridization
• Developmental delay
• Intellectual disability