Difference between revisions of "Chromosomal anomalies"
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'''Chromosomal anomalies''' are common enough in paediatrics that one ought to know about 'em. | '''Chromosomal anomalies''' are common enough in paediatrics that one ought to know about 'em. They are diagnosed by [[cytogenetics]]. | ||
They are pimpable material that is of little practical use... and occasionally used on exams. | |||
==Common anomalies== | ==Common anomalies== | ||
Revision as of 15:57, 16 May 2011
Chromosomal anomalies are common enough in paediatrics that one ought to know about 'em. They are diagnosed by cytogenetics.
They are pimpable material that is of little practical use... and occasionally used on exams.
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.