Chromosomal anomalies

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Chromosomal anomalies are common enough in pediatrics that one ought to know about 'em. They are diagnosed by cytogenetics.

They are pimpable material that is of limited use... unless one does pediatric pathology and fetal autopsies. They occasionally show-up on exams.

Common anomalies

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


A way to remember the eponyms:[2]

  • Patau = puberty age (13).
  • Edwards = election age (18).
  • Down = drinking age - in the USA (21).

Another memory device:

  • Edwards syndrome = Eighteen.

See also


  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.
  2. URL: Accessed on: 16 May 2011.