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Glossary for Chromosome 9q duplication syndrome

  • Beaked nose: A beaked nose is a nose that is protruding and hooks down toward the lips.
  • Bencze syndrome: A rare inherited condition characterized mainly by abnormal, asymmetrical facial bone growth and eye problems in some cases.
  • Chromosome 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms.
  • Deeply set eyes: Deeply set eyes are eyes that appear to be located deeply in the skull.
  • Failure To Thrive: Slow growth or inadequate weight gain of an infant or child.
  • Forehead symptoms: Symptoms affecting the forehead.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Long head: Long head refers to an unusually elongated head.
  • Psychomotor retardation: Psychomotor retardation refers to a slowing of physical movement and speech and activity caused by a mental health or emotional condition, such as depression.
  • Small head: The occurrence of a head which is smaller than normal


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