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Down Syndrome (Trisomy 21)

CHAPTER OBJECTIVES
  • Overview
  • Genetics of Down Syndrome
  • Advanced Maternal Agqe in Down Syndrome
  • Characteristic Features/Phenotype of Down Syndrome
  • Medical Conditions Associated with Down Syndrome
  • Down Syndrome Management
  • Down Syndrome Diagnosis
  • Down syndrome is the most common chromosomal condition affecting new born babies.
  • Characteristics may include intellectual delay, distinct facial features, problems with the heart, and digestive tract.
  • Down syndrome is due to one of the following:
    • An additional copy of chromosome 21 (trisomy 21) in all of the cells of the body (about 95% of cases).
    • An additional copy of chromosome 21 in some of the cells of the body (mosaic trisomy 21—about 1% of cases).
    • A chromosomal ...

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