Chromosome 11, partial trisomy 11q

Chromosome 11, partial trisomy 11q is a rare genetic disorder characterized by the presence of an extra segment of the long arm (q arm) of chromosome 11. This condition results from a duplication (trisomy) of a portion of chromosome 11q, leading to a variety of developmental and physical abnormalities. The specific symptoms and severity can vary widely among affected individuals, depending on the size and location of the duplicated segment.

Causes

Chromosome 11, partial trisomy 11q occurs due to a duplication of a segment on the long arm of chromosome 11. This can happen through several mechanisms, including unequal chromosomal crossover during meiosis, a process in which reproductive cells divide to form sperm or eggs. It can also occur as a result of a parental balanced chromosomal translocation, where a segment of one chromosome is transferred to another chromosome, but without any genetic material loss or gain in the parents. If a child inherits the chromosome with the extra segment, they will have partial trisomy 11q.

Symptoms

The symptoms of Chromosome 11, partial trisomy 11q can vary significantly but may include:

• Intellectual disability
• Developmental delays
• Congenital heart defects
• Distinctive facial features (e.g., widely spaced eyes, low-set ears)
• Skeletal abnormalities
• Growth retardation
• Seizures

Diagnosis

Diagnosis of Chromosome 11, partial trisomy 11q typically involves a combination of physical examination, review of medical history, and genetic testing. Karyotyping and fluorescence in situ hybridization (FISH) are common genetic tests used to identify chromosomal abnormalities, including duplications.

Treatment

There is no cure for Chromosome 11, partial trisomy 11q, and treatment focuses on managing symptoms and supporting the individual's development. This may include:

• Early intervention programs
• Special education services
• Physical therapy
• Speech therapy
• Occupational therapy
• Surgery for physical abnormalities, such as congenital heart defects

Prognosis

The prognosis for individuals with Chromosome 11, partial trisomy 11q varies depending on the extent of the duplication and the associated symptoms. Early intervention and supportive therapies can help improve the quality of life and development for many affected individuals.

See also

• Chromosome 11
• Trisomy
• Genetic disorder
• Chromosomal abnormality