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Glossary for Chromosome 5q deletion syndrome

  • Ear symptoms: Symptoms affecting the ear or hearing
  • Fine-Lubinsky syndrome: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Jaw symptoms: Symptoms affecting the jaw
  • Macrocytic anemia: Macrocytic anemia is a blood disorder where the red blood cells are larger than normal but have low levels of haemoglobin which is needed to carry oxygen throughout the body. The condition usually results from a deficiency of vitamin B12 or folate, digestive problems, malabsorption and certain medications which affect folic acid levels. Various rare inherited disorders may also result in macrocytic anemia e.g. Lesch-Nyhan syndrome. Severity and range of symptom may vary depending on the underlying condition.
  • Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality: A condition where abnormal function of the bone marrow results in insufficient production of normal blood cells. The disorder is caused by the deletion of genetic material from chromosome 5q.
  • Narrow forehead: Narrow forehead refers to a forehead that is unusually thin or slender.

 

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