13q deletion syndrome
13q Deletion Syndrome
13q Deletion Syndrome (pronounced: thirteen-q deletion syndrome) is a rare genetic disorder that is characterized by the partial deletion of the long arm (q) of chromosome 13.
Etymology
The term "13q Deletion Syndrome" is derived from the genetic anomaly that causes the condition. The number "13" refers to the 13th pair of human chromosomes, "q" is the designation for the long arm of a chromosome, and "deletion" refers to the loss of genetic material.
Definition
13q Deletion Syndrome is a chromosomal condition that can lead to intellectual disability, physical abnormalities, and an increased risk of certain types of cancer. The severity of the condition and the associated signs and symptoms can vary widely, depending on the size and location of the deletion on chromosome 13.
Symptoms
Symptoms of 13q Deletion Syndrome can vary greatly from one individual to another. Common symptoms may include intellectual disability, developmental delay, microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features. Some individuals may also have heart defects, kidney abnormalities, and/or skeletal abnormalities.
Diagnosis
Diagnosis of 13q Deletion Syndrome is typically made through a type of genetic testing known as chromosomal microarray analysis. This test can identify small deletions or duplications of genetic material that would be missed by traditional karyotyping.
Treatment
There is currently no cure for 13q Deletion Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and special education services. Regular follow-up with a team of healthcare providers is recommended to monitor for potential complications.
Prognosis
The prognosis for individuals with 13q Deletion Syndrome varies depending on the size and location of the chromosomal deletion, as well as the presence and severity of symptoms. Some individuals may have a normal lifespan with appropriate management and care.
See Also
External links
- Medical encyclopedia article on 13q deletion syndrome
- Wikipedia's article - 13q deletion syndrome
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