Difference between revisions of "Trisomy 21"
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(→Characteristics: +brushfield spots) |
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#'''R'''ound face / Rolling eye (nystagmus). | #'''R'''ound face / Rolling eye (nystagmus). | ||
#'''O'''cciput flat / Oblique eye fissure. | #'''O'''cciput flat / Oblique eye fissure. | ||
#'''B'''rushfield | #'''B'''rushfield spots / Brachycephaly. | ||
#'''L'''ow nasal bridge / Language problems. | #'''L'''ow nasal bridge / Language problems. | ||
#'''E'''picanthic fold / Ears folded. | #'''E'''picanthic fold / Ears folded. | ||
#'''M'''ental retardation / Myoclonus. | #'''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== | ==See also== | ||
Revision as of 21:04, 29 May 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.