Chromosome 11q trisomy

Chromosome 11q trisomy is a rare chromosomal abnormality characterized by the presence of an extra copy of the long arm (q) of chromosome 11. This condition can lead to a variety of physical, developmental, and intellectual disabilities, depending on the size and location of the duplicated segment. Chromosome 11q trisomy is also known by other names, including 11q duplication syndrome and partial trisomy 11q.

Causes

Chromosome 11q trisomy is caused by a genetic mutation that results in the duplication of the q arm of chromosome 11. This can occur through several mechanisms, such as unequal crossing over during meiosis, a translocation involving chromosome 11, or through an isochromosome formation, where a chromosome divides along the wrong axis.

Symptoms

The symptoms of chromosome 11q trisomy can vary widely among affected individuals. Common features include developmental delay, intellectual disability, growth abnormalities, and distinctive facial features such as deep-set eyes, a broad nasal bridge, and a short neck. Other possible symptoms include heart defects, skeletal anomalies, and problems with the digestive system and kidneys.

Diagnosis

Diagnosis of chromosome 11q trisomy typically involves genetic testing and chromosomal analysis to identify the duplication on chromosome 11. Prenatal diagnosis is possible through amniocentesis or chorionic villus sampling (CVS), which can detect chromosomal abnormalities in the fetus.

Treatment

There is no cure for chromosome 11q trisomy, and treatment focuses on managing the symptoms and supporting the individual's development. This may include physical therapy, occupational therapy, special education programs, and surgeries to correct physical abnormalities. Early intervention and supportive care can improve the quality of life for those affected by this condition.

Prognosis

The prognosis for individuals with chromosome 11q trisomy varies depending on the extent of the duplication and the associated symptoms. Some individuals may have mild symptoms and lead relatively normal lives, while others may have severe disabilities requiring lifelong care.