Difference between revisions of "Trisomy 21"

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Trisomy 21 (view source)

Revision as of 03:35, 5 May 2012

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'''Trisomy 21''', also known as '''Down syndrome''', is a common genetic abnormality.
#redirect [[Down syndrome]]
 
==Characteristics==
Mnemonic ''CHILD HAS PROBLEM'':<ref>URL: [http://www.valuemd.com/genetics.php http://www.valuemd.com/genetics.php]. Accessed on: 29 May 2011.</ref>
#[[congenital heart disease|'''C'''ongenital heart disease]] / Cataracts.
#'''H'''ypothyroidism / Hypotonia.
#'''I'''ncurved 5th digit (clinodactyly)<ref>URL: [http://www.handresearch.com/diagnostics/simian-line-down-syndrome.htm http://www.handresearch.com/diagnostics/simian-line-down-syndrome.htm]. Accessed on: 29 May 2011.</ref> / Increased gap between 1st and 2nd toe.
#[[Leukemia|'''L'''eukemia]] risk x2 / Lung problem.
#'''D'''uodenal atresia / Delayed development.
#[[Hirschsprung disease|'''H'''irschsprung disease]] / Hearing loss.
#[[Alzheimer disease|'''A'''lzheimer disease]] / Alantoaxial instability.
#'''S'''hort neck / Squint.
#'''P'''almar crease / Protruding [[tongue]].
#'''R'''ound face / Rolling eye (nystagmus).
#'''O'''cciput flat / Oblique eye fissure.
#'''B'''rushfield spots / Brachycephaly.
#'''L'''ow nasal bridge / Language problems.
#'''E'''picanthic fold / Ears folded.
#'''M'''ental retardation / Myoclonus.
 
Notes:
*Brushfield spots = white/grey spots in the iris (the "colour part" of the eye).
**Image: [http://commons.wikimedia.org/wiki/File:Brushfield_eyes_magnified.jpg Brushfield spots (WC)].
 
==See also==
*[[Trisomy 13]] (Patau syndrome).
*[[Trisomy 18]] (Edwards syndrome).
*[[Chromosomal anomalies]].
*[[Stillbirth]].
 
==References==
{{Reflist|1}}
 
==External links==
*[http://www.ttuhsc.edu/fostersom/pediatrics/neonatology/documents/presentations/trisomy21.ppt Down syndrome (ttuhsc.edu)].
 
[[Category:Syndromes]]
Michael
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