Difference between revisions of "Chromosomal anomalies"
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'''Chromosomal anomalies''' are common enough in | '''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 | They are pimpable material that is of limited use... unless one does [[pediatric pathology]] and [[fetal autopsy|fetal autopsies]]. They occasionally show-up on exams. | ||
==Common anomalies== | ==Common anomalies== | ||
Latest revision as of 18:21, 1 June 2014
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]
- 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.