Down syndrome - Revision history

Michael: /* Characteristics */

2013-05-24T03:25:48Z

Characteristics

← Older revision		Revision as of 03:25, 24 May 2013
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	Notes:		Notes:
	*Brushfield spots = white/grey spots in the iris (the "colour part" of the eye).		*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)].		<gallery>
			Image:Brushfield_eyes_magnified.jpg \| Brushfield spots. (WC)
			</gallery>
	===Simplified===		===Simplified===
	Simplified version of mnemonic ''CHILD HAS PROBLEM'':		Simplified version of mnemonic ''CHILD HAS PROBLEM'':

Michael: +abbrev.

2012-06-13T22:30:34Z

+abbrev.

← Older revision		Revision as of 22:30, 13 June 2012
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	'''Down syndrome''', is a common genetic abnormality. It may also be called '''Trisomy 21'''; however, technically this may not be completely correct in all cases.		'''Down syndrome''', abbreviated '''DS''', is a common genetic abnormality. It may also be called '''Trisomy 21'''; however, technically this may not be completely correct in all cases.

	==Genetics==		==Genetics==

Michael: /* Simplified= */

2012-05-05T03:59:57Z

Simplified=

← Older revision		Revision as of 03:59, 5 May 2012
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	**Image: [http://commons.wikimedia.org/wiki/File:Brushfield_eyes_magnified.jpg Brushfield spots (WC)].		**Image: [http://commons.wikimedia.org/wiki/File:Brushfield_eyes_magnified.jpg Brushfield spots (WC)].

	===Simplified====		===Simplified===
	Simplified version of mnemonic ''CHILD HAS PROBLEM'':		Simplified version of mnemonic ''CHILD HAS PROBLEM'':
	#[[congenital heart disease\|'''C'''ongenital heart disease]].		#[[congenital heart disease\|'''C'''ongenital heart disease]].

Michael: /* Characteristics */

2012-05-05T03:59:41Z

Characteristics

← Older revision		Revision as of 03:59, 5 May 2012
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	**Image: [http://commons.wikimedia.org/wiki/File:Brushfield_eyes_magnified.jpg Brushfield spots (WC)].		**Image: [http://commons.wikimedia.org/wiki/File:Brushfield_eyes_magnified.jpg Brushfield spots (WC)].

	Simplified version ~~ofmMnemonic~~ ''CHILD HAS PROBLEM'':		===Simplified====
			Simplified version of mnemonic ''CHILD HAS PROBLEM'':
	#[[congenital heart disease\|'''C'''ongenital heart disease]].		#[[congenital heart disease\|'''C'''ongenital heart disease]].
	#'''H'''ypothyroidism.		#'''H'''ypothyroidism.
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	#[[Leukemia\|'''L'''eukemia]] risk x2.		#[[Leukemia\|'''L'''eukemia]] risk x2.
	#'''D'''uodenal atresia.		#'''D'''uodenal atresia.
	#[[Hirschsprung disease\|'''H'''irschsprung disease]] ~~/ Hearing loss~~.		#[[Hirschsprung disease\|'''H'''irschsprung disease]].
	#[[Alzheimer disease\|'''A'''lzheimer disease]] / Alantoaxial instability.		#[[Alzheimer disease\|'''A'''lzheimer disease]] / Alantoaxial instability.
	#'''S'''hort neck.		#'''S'''hort neck.

Michael: /* Characteristics */

2012-05-05T03:58:34Z

Characteristics

← Older revision		Revision as of 03:58, 5 May 2012
Line 42:		Line 42:
	*Brushfield spots = white/grey spots in the iris (the "colour part" of the eye).		*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)].		**Image: [http://commons.wikimedia.org/wiki/File:Brushfield_eyes_magnified.jpg Brushfield spots (WC)].

			Simplified version ofmMnemonic ''CHILD HAS PROBLEM'':
			#[[congenital heart disease\|'''C'''ongenital heart disease]].
			#'''H'''ypothyroidism.
			#'''I'''ncurved 5th digit (clinodactyly) / Increased gap between 1st and 2nd toe.
			#[[Leukemia\|'''L'''eukemia]] risk x2.
			#'''D'''uodenal atresia.
			#[[Hirschsprung disease\|'''H'''irschsprung disease]] / Hearing loss.
			#[[Alzheimer disease\|'''A'''lzheimer disease]] / Alantoaxial instability.
			#'''S'''hort neck.
			#'''P'''almar crease / Protruding [[tongue]].
			#'''R'''ound face.
			#'''O'''cciput flat / Oblique eye fissure.
			#'''B'''rushfield spots / Brachycephaly.
			#'''L'''ow nasal bridge.
			#'''E'''picanthic fold / Ears folded.
			#'''M'''ental retardation.

	==See also==		==See also==

Michael: +genetics

2012-05-05T03:48:34Z

+genetics

← Older revision		Revision as of 03:48, 5 May 2012
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	'''Down syndrome''', is a common genetic abnormality. It may also be called '''Trisomy 21'''; however, technically this may not be completely correct in all cases.		'''Down syndrome''', is a common genetic abnormality. It may also be called '''Trisomy 21'''; however, technically this may not be completely correct in all cases.

			==Genetics==
			Down syndrome can be the result of three different defects:<ref name=Ref_PCPBoD8_99>{{Ref PCPBoD8\|99}}</ref>
			{\| class="wikitable sortable"
			! Defect
			! Percent of DS
			! Notes
			\|-
			\|Extra chromosome 21 (trisomy 21)
			\| ~95%
			\| defect seen more often with increasing maternal age
			\|-
			\|Robertsonian translocation
			\| ~4%
			\| part of chromosome 21 attaches to chromosome 22 or 14; one parent is a carrier -- recurrence virtually 100%; no age dependence
			\|-
			\|Mosaicism
			\| ~1%
			\| some cells have a triple dose of chromosome 21 while others have a normal number of chromosome 21; no age dependence
			\|}

	==Characteristics==		==Characteristics==

Michael: rename

2012-05-05T03:35:13Z

rename

← Older revision		Revision as of 03:35, 5 May 2012
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	#~~redirect~~ [[~~trisomy 21~~]]		'''Down syndrome''', is a common genetic abnormality. It may also be called '''Trisomy 21'''; however, technically this may not be completely correct in all cases.

			==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\|2}}

			==External links==
			*[http://www.ttuhsc.edu/fostersom/pediatrics/neonatology/documents/presentations/trisomy21.ppt Down syndrome (ttuhsc.edu)].

			[[Category:Syndromes]]

Michael: redirect for now

2011-05-29T20:48:10Z

redirect for now

New page

#redirect [[trisomy 21]]