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Glossary for Chromosome 12q duplication syndrome

  • Bencze syndrome: A rare inherited condition characterized mainly by abnormal, asymmetrical facial bone growth and eye problems in some cases.
  • Chromosome 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Epicanthal folds: Skin folds on the upper eyelid.
  • Eye symptoms: Symptoms affecting the eye
  • 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
  • Infant Death: The death of an infant
  • Jaw symptoms: Symptoms affecting the jaw
  • Long head: Long head refers to an unusually elongated head.
  • Prominent forehead: An enlarged or prominent forehead (brow) of the head.
  • Simian crease: Simian crease is a condition in which a person has only one crease on the palm of the hand instead of two or more.
  • Small head: The occurrence of a head which is smaller than normal


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