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Glossary for Chromosome 6q deletion syndrome

  • Bencze syndrome: A rare inherited condition characterized mainly by abnormal, asymmetrical facial bone growth and eye problems in some cases.
  • Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Coarse facial features: The occurrence of coarse feature on ones face
  • Face symptoms: Symptoms affecting the face
  • 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
  • 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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