Chromosomal anomalies: Difference between revisions
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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 limited use... unless one does [[pediatric pathology]] and [[fetal autopsy|fetal autopsies]]. They occasionally show-up on exams. | |||
==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). | ||
*Klinefelter syndrome (47 XXY). | *[[Klinefelter syndrome]] (47 XXY). | ||
*Monosomy X (45 X, AKA Turner syndrome). | *[[Monosomy X]] (45 X, AKA Turner syndrome). | ||
*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. | |||
==See also== | |||
*[[Chromosomal translocations]]. | |||
*[[Molecular pathology]]. | |||
*[[Cytogenetics]]. | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Pediatric pathology]] | [[Category:Pediatric pathology]] | ||