Chromosomal anomalies

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Chromosomal anomalies are common enough in paediatrics that one ought to know about 'em.

The most common ones in live born infants are:[1]

  • Trisomy 21 (Down syndrome).
  • Klinefelter syndrome (47 XXY).
  • Monosomy X (45 X, AKA Turner syndrome).
  • Trisomy 13 (Patau syndrome).
  • Trisomy 18 (Edwards syndrome).

References

  1. ↑ Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 237. ISBN 978-1416054542.
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