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Glossary for Chromosome 15q, deletion

  • Beaked nose: A beaked nose is a nose that is protruding and hooks down toward the lips.
  • Chromosome 15q duplication syndrome: 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.
  • Diabetic retinopathy: Diabetic retinopathy is the most common diabetic eye disease and a leading cause of blindness in American adults. It is caused by changes in the blood vessels of the retina.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Kidney symptoms: Symptoms affecting one or both kidneys.
  • Numbness of both elbows: Numbness of both elbows refers to the loss or reduction of sensation in the elbows.
  • Prader-Willi syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and small hands and feet.
  • Small corneas: Small corneas are corneas of the eyes that are unusually small.
  • Small head: The occurrence of a head which is smaller than normal

 

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