Table 1.

Variable expressivity in selected microdeletion syndromes

	Frequency in clinical cohorts*	Intellectual disability or developmental delay	Autism spectrum disorder	Schizophrenia	Epilepsy
22q11.2	1 in 167	✓	✓	✓	✓
16p11.2	1 in 241	✓	✓	··	✓
1q21.1	1 in 309	✓	✓	✓	✓
15q13.2-q13.3	1 in 358	✓	✓	✓	✓
7q11.23	1 in 415	✓	✓	··	✓
15q11.2-q13	1 in 553	✓	✓	✓	✓
17q21.31	1 in 700	✓	✓	··	✓
16p13.11	1 in 788	✓	✓	✓	✓
17q12	1 in 985	✓	✓	✓	✓
17p11.2	1 in 985	✓	✓	··	✓
8p23.1	1 in 1854	✓	✓	··	✓
5q35	1 in 1970	✓	✓	··	✓
3q29	1 in 2101	✓	✓	✓	··

^*Frequency in individuals referred for chromosomal microarray testing. Common indications for testing include neurodevelopmental disorders and multiple congenital anomalies.³³