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. | ||
==Common anomalies== | |||
The most common ones in live born infants are:<ref>{{Ref PCPBoD8|237}}</ref> | The most common ones in live born infants are:<ref>{{Ref PCPBoD8|237}}</ref> | ||
*[[Trisomy 21]] (Down syndrome). | *[[Trisomy 21]] (Down syndrome). | ||
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*[[Trisomy 13]] (Patau syndrome). | *[[Trisomy 13]] (Patau syndrome). | ||
*[[Trisomy 18]] (Edwards syndrome). | *[[Trisomy 18]] (Edwards syndrome). | ||
===Mnemonics=== | |||
A way to remember the eponyms:<ref>URL: [http://www.usmle-forums.com/usmle-step-1-mnemonics/369-edward-patau.html http://www.usmle-forums.com/usmle-step-1-mnemonics/369-edward-patau.html]. Accessed on: 16 May 2011.</ref> | |||
*Patau = puberty age (13). | |||
*Edwards = election age (18). | |||
*Down = drinking age - in the USA (21). | |||
Another memory device: | |||
*'''E'''dwards syndrome = '''E'''ighteen. | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Pediatric pathology]] | [[Category:Pediatric pathology]] | ||
Revision as of 15:12, 16 May 2011
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.