Chromosome 11p, partial deletion

Chromosome 11p partial deletion is a genetic condition resulting from the loss of a segment of the short arm (p) of chromosome 11. This deletion can lead to various developmental, physical, and intellectual abnormalities, depending on the size and location of the deletion. The condition is a type of chromosomal abnormality known as a deletion syndrome.

Causes

The partial deletion of chromosome 11p occurs due to errors in the cell division process, either during the formation of reproductive cells (eggs and sperm) or in the early stages of fetal development. These errors can be random or, in rare cases, inherited from a parent who carries a rearrangement of chromosomes known as a balanced translocation.

Symptoms

Symptoms of chromosome 11p partial deletion can vary widely among affected individuals. Common features may include developmental delay, intellectual disability, growth abnormalities, and distinctive facial features. Specific health issues associated with this condition can include Wilms' tumor, Aniridia (absence of the iris in the eye), genital and urinary tract anomalies, and behavioral problems.

Diagnosis

Diagnosis of chromosome 11p partial deletion typically involves genetic testing, including karyotyping and fluorescent in situ hybridization (FISH), to identify the specific deletion on chromosome 11. Prenatal testing may be offered to families with a known risk of chromosomal abnormalities.

Treatment

There is no cure for chromosome 11p partial deletion, and treatment focuses on managing symptoms and supporting the individual's development. This may include educational support, physical therapy, and medical management of specific health issues. Genetic counseling is recommended for families affected by this condition to understand the risks for future pregnancies.

Prognosis

The prognosis for individuals with chromosome 11p partial deletion varies depending on the extent of the deletion and the associated symptoms. With appropriate support, many affected individuals can lead fulfilling lives.