Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 

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

 

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise