5q- syndrome
5q- Syndrome
5q- Syndrome (pronounced: five q minus syndrome) is a rare disorder caused by the deletion of a part of the long arm (q) of human chromosome 5. The syndrome is characterized by specific anomalies that include anemia, malformation of the hands and feet, and developmental delay.
Etymology
The term "5q-" refers to the specific location of the genetic material that is missing in individuals with this disorder. The "q" refers to the long arm of a chromosome, and the "-" indicates that material from this region is missing or deleted.
Symptoms
The most common symptom of 5q- syndrome is macrocytic anemia, which is characterized by larger-than-normal red blood cells. Other symptoms may include skeletal abnormalities, such as malformations of the hands and feet, and developmental delay. Some individuals with 5q- syndrome may also have a distinctive facial appearance, including a long, narrow face and a prominent forehead.
Diagnosis
Diagnosis of 5q- syndrome is typically made through a combination of clinical examination and genetic testing. Genetic testing can identify the specific deletion on chromosome 5 that is associated with the syndrome.
Treatment
Treatment for 5q- syndrome is typically supportive and focuses on managing the symptoms of the disorder. This may include blood transfusions for anemia, physical therapy for skeletal abnormalities, and special education services for developmental delay.
Prognosis
The prognosis for individuals with 5q- syndrome varies. Some individuals may have mild symptoms and live a normal lifespan, while others may have severe symptoms and require ongoing medical care.
See Also
External links
- Medical encyclopedia article on 5q- syndrome
- Wikipedia's article - 5q- syndrome
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