Distal 18q-
Distal 18q- (pronounced: dis-tal eighteen-q-minus) is a rare genetic condition that results from a deletion of genetic material on the long arm (q) of chromosome 18. The term "distal" refers to the deletion occurring towards the end of the chromosome. The size of the deletion varies among affected individuals and this variation can influence the severity and type of symptoms.
Etymology
The term "Distal 18q-" is derived from the location and nature of the genetic mutation. "Distal" is a term used in genetics to refer to a position on a chromosome that is farther from the centromere, the point where the two chromatids are joined together. "18q-" refers to a deletion on the long arm (q) of chromosome 18.
Symptoms
Symptoms of Distal 18q- can vary greatly among individuals. Common symptoms include intellectual disability, growth retardation, hypotonia (low muscle tone), microcephaly (small head size), hearing loss, and foot deformities. Some individuals may also have heart defects, kidney abnormalities, and immune system problems.
Diagnosis
Diagnosis of Distal 18q- is typically made through genetic testing, which can identify the deletion of genetic material on chromosome 18. This is often done through a type of test called a chromosomal microarray, which can detect small deletions that may not be seen on a standard karyotype.
Treatment
There is currently no cure for Distal 18q-, and treatment is symptomatic and supportive. This may include physical therapy for hypotonia, speech therapy for speech delays, and educational support for intellectual disability. Regular follow-up with a team of specialists is important to monitor and manage the various health issues associated with this condition.
See also
External links
- Medical encyclopedia article on Distal 18q-
- Wikipedia's article - Distal 18q-
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