Difference between revisions of "Trisomy 21"
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*[[congenital heart disease|'''C'''ongenital heart disease]] / Cataracts. | *[[congenital heart disease|'''C'''ongenital heart disease]] / Cataracts. | ||
*Hypotonia / Hypothyroidism. | *Hypotonia / Hypothyroidism. | ||
*Incurved 5th | *Incurved 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]] risk x2 / Lung problem. | *[[Leukemia]] risk x2 / Lung problem. | ||
*Duodenal atresia / Delayed development. | *Duodenal atresia / Delayed development. | ||
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==References== | ==References== | ||
{{Reflist|1}} | {{Reflist|1}} | ||
==External links== | |||
*[http://www.ttuhsc.edu/fostersom/pediatrics/neonatology/documents/presentations/trisomy21.ppt Down syndrome (ttuhsc.edu)]. | |||
[[Category:Syndromes]] | [[Category:Syndromes]] |
Revision as of 20:56, 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.
- Hypotonia / Hypothyroidism.
- 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.
- Squint / Short neck.
- Protruding tongue/ Palmar crease.
- Round face / Rolling eye (nystagmus).
- Occiput flat / Oblique eye fissure.
- Brushfield spot / Brachycephaly.
- Low nasal bridge / Language problems.
- Epicanthic fold / Ears folded.
- Mental retardation / Myoclonus.
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.