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Autosomal Abnormalities - Down's syndrome (Mongolian Idiocy)

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CISCE: Class 12

Key Points: Down’s Syndrome

  • Down’s syndrome is a chromosomal disorder caused by trisomy of chromosome 21.
  • Affected individuals have 47 chromosomes instead of the normal 46 due to non-disjunction.
  • It is characterised by mental retardation, distinctive facial features, and short stature.
  • Congenital heart defects and low muscle tone are commonly associated features.
  • The risk increases with advanced maternal age (above 35 years) and can be detected by amniocentesis.
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