Genetic defects, syndromes and disorders, Aneuploidy in human

Genetic Defects and Disorders


Sex Chromosome Defects:-

  • Turner's syndrome = Monosomy (X+0) (44+X) 
  • Klinefelter's syndrome = Trisomy (XXY)(44+XXY)
  • Super female = Trisomy = (44+XXX)


Somatic Chromosome Defects:-

  • Patau's Syndrome = trisomy of 13th chromosome
  • Edward's Syndrome = trisomy of 18th chromosome
  • Down's Syndrome = trisomy of 21st chromosome


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