7q11.23 duplication syndrome
7q11.23 Duplication Syndrome
7q11.23 duplication syndrome (pronunciation: seven q eleven point two three duplication syndrome) is a rare genetic disorder caused by the duplication of a small piece of chromosome 7. The syndrome is characterized by a wide range of medical and developmental problems.
Etymology
The name "7q11.23 duplication syndrome" is derived from the specific location of the duplicated segment on chromosome 7. The "q" refers to the long arm of the chromosome, "11.23" refers to the position of the segment, and "duplication" indicates that this segment is present in two copies instead of the usual single copy.
Symptoms
Individuals with 7q11.23 duplication syndrome may exhibit a variety of symptoms, including intellectual disability, speech delay, anxiety disorders, and distinctive facial features. Some individuals may also have heart defects and other physical abnormalities.
Diagnosis
Diagnosis of 7q11.23 duplication syndrome is typically made through genetic testing, which can identify the presence of the extra copy of the 7q11.23 segment.
Treatment
There is currently no cure for 7q11.23 duplication syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support.
Prognosis
The prognosis for individuals with 7q11.23 duplication syndrome varies widely, depending on the severity of symptoms and the presence of other health problems.
See Also
External links
- Medical encyclopedia article on 7q11.23 duplication syndrome
- Wikipedia's article - 7q11.23 duplication syndrome
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