Table 2.

Array results with incidences and postnatal ascertained phenotype

Array result	N	Incidences affected vs. controlsa	Phenotypeb
15q11.2 microdeletion	4	0.60 % vs. 0.20 % (Cooper et al. 2011) 0.41 % vs. 0.37 % (Burnside et al. 2011)	Intellectual disability, neurodevelopmental delay, behavioral problems, autism, facial dysmorphism (Girirajan et al. 2012; Rosenfeld et al. 2013)
22q11.2 microduplication	1	0.21 % vs. 0.05 % (Kaminsky et al. 2011)	Intellectual disability, hypotonia, hearing loss, epilepsy, cardiac malformations, urinary tract anomalies, growth retardation, facial dysmorphism (Firth 1993)
16p11.2 microduplication	1	0.18 % vs. 0.02 % [32] 0.25 % vs. 0.04 % (Kaminsky et al. 2011)	Intellectual disability, schizophrenia, autism (Kaminsky et al. 2011; Cooper et al. 2011)
3q29 microduplication	1	0.0005 % vs. 0.00009 % (Kaminsky et al. 2011)	Intellectual disability, hypotonia, occular anomalies, congenital heart defects (Ballif et al. 2008; Goobie et al. 2008)
1q21.1 microdeletion	1	0.35 % vs. 0.03 % (Kaminsky et al. 2011) 0.28 % vs. 0.018 % (Rosenfeld et al., 2013)	Intellectual disability, microcephaly, cardiac malformations, cataracts, schizophrenia, renal and urinary tract anomalies, autism (Rosenfeld et al. 2013)

^aIncidences as counseled by the clinical geneticist in 2012–2013

^bPhenotype: postnatal ascertained proband