Difference between revisions of "Chromosomal anomalies"
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'''Chromosomal anomalies''' are common enough in paediatrics that one ought to know about 'em. They are diagnosed by [[cytogenetics]]. | '''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 | They are pimpable material that is of little practical use... unless one does [[pediatric pathology]] and [[fetal autopsy|fetal autopsies]]. It is occasionally shows up on exams. | ||
==Common anomalies== | ==Common anomalies== | ||
Revision as of 02:57, 29 December 2013
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... unless one does pediatric pathology and fetal autopsies. It is occasionally shows up 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.
See also
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.