Table 3.

Examples of syndromes associated with recurrent and non-recurrent CNVs. See Spinner et. al. (13) for further details including clinical descriptions.

Syndrome	CNV	Recurrent breakpoints?	Notes
1p36	1p36 deletion	No	Variable size from 0.5 to 10 Mb; ~50% due to terminal deletion, ~30% interstitial deletion, and remainder due unbalanced to rearrangements
Wolf-Hirschhorn	4p partial deletion (4p-)	No	Critical region is 4p16.3 (165 kb); ~45–50% due to unbalanced translocation
Cri-du-chat	5p partial deletion (5p-)	No	Critical regions: - Cat-like cry: 1.5 Mb region of 5p15.31 - Speech delay: 3 Mb region of 5p15.33-5p15.32. - Dysmorphic facial features: 2.4 Mb region of 5p15.31-p15.2 ~90% associated with de novo deletions
Williams	7q11.23 deletion	Yes	1.5 Mb deletion involving 25 genes in >90% patients Critical genes: - ELN: cardiovascular and connective tissue phenotypes - LIMK1: impaired visual motor integration - BAZ1B: hypercalcemia
Miller-Dieker	17p13.3 deletion	No	LIS1 is responsible for lissencephaly, and mutations in LIS1 result in isolated lissencephaly
Hereditary neuropathy and pressure palsies (HNPP)	17p12 deletion	Yes	1.5 Mb deletion in 80% of patients PMP22 is critical gene
Charcot Marie Tooth Type 1	17p12 duplication	Yes	1.5 Mb duplication, reciprocal to HNPP deletion PMP22 is critical gene
Smith-Magenis	17p11.2 deletion	Yes	3.7 Mb deletion in >90% patients RAI1 associated with sleep disturbances
Potocki-Lupski	17p11.2 duplication	Yes	3.7 Mb duplication, reciprocal to Smith-Magenis deletion
22q11.2	22q11.2 deletion	Yes	3.0 Mb deletion in 85%, rest have deletions associated with two of four recurrent breakpoints >90 genes involved, TBX1 may be partially responsible for cardiac abnormalities