Down syndrome (genetics)

Down syndrome (genetics)


Down syndrome is caused by the presence of extra genetic material from a chromosome 21. The following table illustrates the three different types:-

FormInheritancePercentage of Down syndrome casesCause
Full trisomy 21Not inherited95%Nondisjunction, extra chromosome comes from the mother 88% of the time, and from the father 12% of the time
Translocation Down syndromeInherited2-3%Balanced translocation
Mosaic Down syndromeNot inherited2-3%Occurs as a random event during cell division early in fetal development

The risk of having a child with Down syndrome increases as a mother gets older.

  • Maternal age of 35 years, the risk is 1 in 385
  • Maternal age of 40 years, the risk is 1 in 106
  • Maternal age of 45 years, the risk is 1 in 30