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Glossary for Chromosome 13q deletion syndrome

  • Aniridia: A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV.
  • Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
  • Eye symptoms: Symptoms affecting the eye
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Malformed ears: Malformed ears are ears that are deformed.
  • Retinoblastoma: A very rare malignant tumor that originates in the retina.
  • Small eye: Small eye is a condition in which an eye is unusually small.
  • Small head: The occurrence of a head which is smaller than normal

 

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