Trisomy 21

Trisomy 21, also known as Down syndrome, is a common genetic abnormality.

Characteristics

Mnemonic CHILD HAS PROBLEM:

1. Congenital heart disease / Cataracts.
2. Hypothyroidism / Hypotonia.
3. Incurved 5th digit (clinodactyly) / Increased gap between 1st and 2nd toe.
4. Leukemia risk x2 / Lung problem.
5. Duodenal atresia / Delayed development.
6. Hirschsprung disease / Hearing loss.
7. Alzheimer disease / Alantoaxial instability.
8. Short neck / Squint.
9. Palmar crease / Protruding tongue.
10. Round face / Rolling eye (nystagmus).
11. Occiput flat / Oblique eye fissure.
12. Brushfield spots / Brachycephaly.
13. Low nasal bridge / Language problems.
14. Epicanthic fold / Ears folded.
15. 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.

External links

• Down syndrome (ttuhsc.edu).