Table 2 Examples of genetic risk variants for children assessed in DAGSY
Category | Examples |
|---|---|
Microdeletion and microduplication disorders | • 22q11.2 • 16p11.2 • 17p11.2 • 5p • 9p • 3q13 • 12q |
Single gene disorders | • ARID2 • ARID1B • ANKRD11 • SLC6A8 • PTCHD1 • SHANK3 • K1F1A • EHMT1 |
Chromosomal disorders | • 47XXX • 47XXY • 45X • Trisomy 21 |