Table 3.

Recurrent CNVs identified in this study. UPD, uniparental disomy.

Loci	CN	Size range (Kb)	No. of patients	Syndrome involved
7q11.23	Loss	1294–1675	11	Williams syndrome
	Gain		1
15q11.2-q13.1	Gain	5764–79000	4	Angelman/Prader-Willi syndrome
	Loss		3
	UPD		1
22q11.21	Loss	2821–3154	4	DiGeorge syndrome
1q21.2	Loss	1325–2470	4	1q21.2 microdeletion syndrome
	Gain		1
17q11.2	Loss	2063–3236	2	Neurofibromatosis type 1
5pter	Loss	25831–49988	2	Cri du chat syndrome