Table 1 Frequency of 16p11.2 microdeletions and microduplications reported in large-scale population studies

Sebat et al. (2007)^a

Sporadic ASD

1/118

0.85%

0.51%

0/118

0.00%

0.00%

47 multiplex ASD families

0/77

0.00%

0/77

0.00%

Kumar et al. (2008)

Sporadic autism

0/87

0.00%

0.56%

1/712

0.14%

0.14%

625 multiplex autism families

4/625^b

0.64%

Weiss et al. (2008)

751 multiplex autism families

5/1441^b

0.35%

0.46%

7/1441

0.49%

0.40%

Icelandic patients with ASD

3/299

1.00%

0/299

0.00%

Christian et al. (2008)^c

Sporadic ASD

0/35

0.00%

1.01%

362 multiplex ASD families

4/362^b

1.10%

Marshall et al. (2008)

Sporadic ASD

1/238

0.42%

0.47%

1/238

0.42%

0.47%

189 multiplex ASD families

1/189

0.53%

1/189

0.53%

Glessner et al. (2009)^d

Sporadic & familial autism

3/859

0.35%

0.36%

2/859

0.23%

0.41%

Sporadic & familial ASD

5/1336^b

0.37%

7/1336

0.52%

This study

Patients referred for clinical aCGH testing with ASD indication

6/820

0.73%

0.46%

3/820

0.37%

0.33%

Patients referred for clinical aCGH testing without ASD indication

39/8953

0.44%

29/8953

0.32%

Rosenberg et al .(2006)

Patients with mental retardation, dysmorphic features, and normal karyotype

1/81

1.23%

1.23%

0/81

0.00%

0.00%

Weiss et al. (2008)

Icelandic patients with schizophrenia, bipolar disorder, ADHD, panic disorder, anxiety, depression, addiction, or dyslexia

5/5019

0.10%

0.10%

2/5019

0.04%

0.04%

Children with mental retardation, developmental delay, or ASD

5/512^e

0.98%

0.98%

4/512

0.78%

0.78%

Walsh et al. (2008)

Patients with childhood-onset schizophrenia and IQ ≥70.

0/83

0.00%

0.00%

2/83

2.41%

2.41%

Bijlsma et al. (2009)

Patients with MR/MCA

14/4284

0.33%

0.33%

This study; Itsara et al. (2009)

936 middle-aged Americans, 671 NINDS samples, 886 HGDP samples

0/2393

0.00%

0.00%

1/2393

0.04%

0.04%

Sebat et al. (2007)^a

Unaffected siblings of individuals with ASD

0/76

0.00%

0.00%

0/76

0.00%

0.00%

99 families without autism

0/120

0.00%

0/120

0.00%

Kumar et al. (2008)

NIMH controls

0/837

0.00%

0.00%

2/837

0.24%

0.24%

Weiss et al. (2008)

Parents from multiplex autism families

0/1420

0.00%

0.02%

2/1420

0.14%

0.03%

1087 individuals with bipolar disorder +1727 NIMH controls

3/2814

0.11%

0/2814

0.00%

Children's Hospital patients without developmental delay, mental retardation, or ASD

0/434

0.00%

0/434

0.00%

Unscreened Icelandic individuals

2/18834

0.01%

5/18834

0.03%

Christian et al. (2008)^c

NIMH controls

0/372

0.00%

0.00%

Marshall et al., Fernandez et al. (2008; 2009)

German blood donors & Canadians >age 60 in coronary artery disease study

0/2387

0.00%

0.00%

0/2387

0.00%

0.00%

Walsh et al. (2008)

Non-transmitted chromosomes of parents of sample of children with childhood-onset schizophrenia

0/77

0.00%

0.00%

0/77

0.00%

0.00%

Glessner et al. (2009)^{d, g}

Well, ASD-free, Caucasian children

4/2519

0.16%

0.16%

4/2519

0.16%

0.16%