13q deletion syndrome

13q Deletion Syndrome

Diagram of autosomal dominant inheritance.

13q Deletion Syndrome is a rare genetic disorder caused by the deletion of a portion of the long arm (q arm) of chromosome 13. This condition can lead to a variety of developmental and physical abnormalities, depending on the size and location of the deletion.

Genetics

13q Deletion Syndrome is typically caused by a chromosomal deletion that occurs during the formation of reproductive cells or in early fetal development. The deletion can vary in size, and the specific genes lost in the deletion determine the severity and type of symptoms experienced by the individual.

The syndrome can occur as a de novo event, meaning it is not inherited from the parents, or it can be inherited in an autosomal dominant pattern if a parent carries a balanced translocation involving chromosome 13.

Clinical Features

Individuals with 13q Deletion Syndrome may present with a range of clinical features, including:

• Developmental delay and intellectual disability
• Craniofacial abnormalities, such as microcephaly and a flat nasal bridge
• Congenital heart defects
• Skeletal abnormalities, including limb malformations
• Growth retardation
• Ocular anomalies, such as coloboma or microphthalmia

The severity of these features can vary widely among affected individuals.

Diagnosis

Diagnosis of 13q Deletion Syndrome is typically made through genetic testing, such as karyotyping or chromosomal microarray analysis, which can identify the specific deletion on chromosome 13. Prenatal diagnosis is also possible if there is a known risk of the syndrome.

Management

There is no cure for 13q Deletion Syndrome, and treatment is focused on managing the symptoms and improving the quality of life for affected individuals. This may involve:

• Early intervention programs and special education
• Surgical correction of congenital anomalies
• Regular monitoring and treatment of heart defects
• Supportive therapies, such as physical, occupational, and speech therapy

Prognosis

The prognosis for individuals with 13q Deletion Syndrome varies depending on the size and location of the deletion and the severity of the symptoms. With appropriate medical care and support, many individuals can lead fulfilling lives.

Related Pages

• Chromosomal deletion
• Autosomal dominant
• Genetic disorder
• Congenital heart defect