Chromosomal anomalies
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Chromosomal anomalies are common enough in paediatrics that one ought to know about 'em.
Common anomalies
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).
Mnemonics
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.
References
- ↑ 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.
- ↑ URL: http://www.usmle-forums.com/usmle-step-1-mnemonics/369-edward-patau.html. Accessed on: 16 May 2011.