Chromosomal Abnormalities Summary

Chromosomal Abnormalities

Autosomal Abnormalities

  • Trisomy 21 (Down Syndrome): Extra chromosome 2121 (three copies).
  • Trisomy 18 (Edward Syndrome): Extra chromosome 1818 (three copies).
  • Trisomy 13 (Patau Syndrome): Extra chromosome 1313 (three copies).

Sex Chromosome Abnormalities

  • XXY (Klinefelter Syndrome): Extra X chromosome (male).
  • XO (Turner Syndrome): Missing an X chromosome (female).
  • XYY (Jacobs Syndrome): Extra Y chromosome (male).
  • XXX (Triplo-X Syndrome): Extra X chromosome (female).