Chromosome 5q deletion syndrome
Chromosome 5q Deletion Syndrome
Chromosome 5q deletion syndrome, also known as 5q- syndrome, is a rare genetic disorder characterized by the deletion of the long arm (q) of chromosome 5. The pronunciation is /ˈkroʊməˌsoʊm faɪv kjuː dɪˈliːʃən sɪnˈdroʊm/. The etymology of the term comes from the Greek words "chroma" meaning color, "soma" meaning body (referring to the colored bodies seen in the cell nucleus), and "syndrome" from the Greek "syndromē" meaning concurrence of symptoms.
Symptoms
The syndrome is associated with a variety of symptoms, including anemia, malformations of the hands and feet, growth retardation, and distinctive facial features. The severity and range of these symptoms can vary widely among affected individuals.
Diagnosis
Diagnosis of Chromosome 5q deletion syndrome is typically made through genetic testing, which can identify the specific chromosomal abnormality. This usually involves a type of blood test known as a karyotype.
Treatment
Treatment for Chromosome 5q deletion syndrome is typically supportive and based on the signs and symptoms present in each individual. This may include blood transfusions for anemia, physical therapy for growth and development issues, and other supportive treatments as needed.
Prognosis
The prognosis for individuals with Chromosome 5q deletion syndrome varies based on the severity of symptoms and the individual's overall health. Some individuals may live relatively normal lives with appropriate treatment and management, while others may experience significant health challenges.
See Also
External links
- Medical encyclopedia article on Chromosome 5q deletion syndrome
- Wikipedia's article - Chromosome 5q deletion syndrome
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