Child health · UKMLA & AKT
Down's syndrome
A free high-yield preview for the UKMLA Applied Knowledge Test, covering how to recognise this condition. The full SA Note notes add investigations, management and complications, with practice questions on this topic.
Key high-yield points
- Most common autosomal trisomy compatible with survival - trisomy 21
- Incidence ~1 in 1,500 at age 20, rising to ~1 in 30 at age 45
- Three genetic subtypes: free trisomy 21 (non-disjunction, most common), Robertsonian translocation (familial - karyotype parents), mosaicism (milder phenotype)
Translocation Down's syndrome requires parental karyotyping - recurrence risk is significantly higher than free trisomy. Free trisomy 21 does not require parental karyotyping.
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