Down syndrome (DS) is a genetic disorder caused by trisomy 21, the presence of a supernumerary chromosome 21, which results in physical and neurocognitive alterations. This Primer reviews the epidemiology of DS, the steadily increasing insights into its pathogenesis and how these are translating into improved treatments.
- Stylianos E. Antonarakis
- Brian G. Skotko
- Roger H. Reeves
