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Diseases » Monosomy 12p13 » Glossary
 

Glossary for Monosomy 12p13

  • Chromosome 12p partial deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 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.
  • Deformity symptoms: Various types of deformity
  • Deletion 12p13: A very rare chromosomal disorder where a portion of the short arm (p13) of chromosome 12 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms can vary amongst patients depending on the exact location and size of the genetic abnormality.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.

 

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