Trisomy 21
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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.