Difference between revisions of "Trisomy 21"
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#[[Alzheimer disease|'''A'''lzheimer disease]] / Alantoaxial instability. | #[[Alzheimer disease|'''A'''lzheimer disease]] / Alantoaxial instability. | ||
#'''S'''hort neck / Squint. | #'''S'''hort neck / Squint. | ||
#'''P'''almar crease / Protruding tongue. | #'''P'''almar crease / Protruding [[tongue]]. | ||
#'''R'''ound face / Rolling eye (nystagmus). | #'''R'''ound face / Rolling eye (nystagmus). | ||
#'''O'''cciput flat / Oblique eye fissure. | #'''O'''cciput flat / Oblique eye fissure. | ||
Revision as of 15:50, 8 October 2011
Trisomy 21, also known as Down syndrome, is a common genetic abnormality.
Characteristics
Mnemonic CHILD HAS PROBLEM:[1]
- Congenital heart disease / Cataracts.
- Hypothyroidism / Hypotonia.
- Incurved 5th digit (clinodactyly)[2] / Increased gap between 1st and 2nd toe.
- Leukemia risk x2 / Lung problem.
- Duodenal atresia / Delayed development.
- Hirschsprung disease / Hearing loss.
- Alzheimer disease / Alantoaxial instability.
- Short neck / Squint.
- Palmar crease / Protruding tongue.
- Round face / Rolling eye (nystagmus).
- Occiput flat / Oblique eye fissure.
- Brushfield spots / Brachycephaly.
- Low nasal bridge / Language problems.
- Epicanthic fold / Ears folded.
- Mental retardation / Myoclonus.
Notes:
- Brushfield spots = white/grey spots in the iris (the "colour part" of the eye).
- Image: Brushfield spots (WC).
See also
- Trisomy 13 (Patau syndrome).
- Trisomy 18 (Edwards syndrome).
- Chromosomal anomalies.
- Stillbirth.
References
- ↑ URL: http://www.valuemd.com/genetics.php. Accessed on: 29 May 2011.
- ↑ URL: http://www.handresearch.com/diagnostics/simian-line-down-syndrome.htm. Accessed on: 29 May 2011.