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Glossary for Chromosome 8p deletion syndrome

  • Anemia: Reduced ability of blood to carry oxygen from various possible causes.
  • Chromosome 8, monosomy 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
  • Epicanthal folds: Skin folds on the upper eyelid.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Head symptoms: Symptoms affecting the head or brain
  • Jaw symptoms: Symptoms affecting the jaw
  • Long head: Long head refers to an unusually elongated head.
  • Malformed ears: Malformed ears are ears that are deformed.
  • Microcephaly: Small head circumference
  • Prominent back of skull: Prominent back of skull is an unusually large or protruding back of the skull.
  • Small head: The occurrence of a head which is smaller than normal

 

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