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Diseases » 3q deletion » Glossary

Glossary for 3q deletion

  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
  • Ear shapes: Differences in the shape of the ears
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Jaw symptoms: Symptoms affecting the jaw
  • Long head: Long head refers to an unusually elongated head.
  • Small head: The occurrence of a head which is smaller than normal


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