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Glossary for Chromosome 15q duplication syndrome

  • Bencze syndrome: A rare inherited condition characterized mainly by abnormal, asymmetrical facial bone growth and eye problems in some cases.
  • Cheek symptoms: Symptoms affecting the cheek region
  • Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Cleft palate: Birth defect of lip and mouth.
  • Congenital heart defects: Heart defects that a baby is born with.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Pneumonia: Infection of the lung by bacteria, viruses or fungus.
  • Small head: The occurrence of a head which is smaller than normal

 

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