Table 1.
Frequency of 16p11.2 microdeletions and microduplications reported in large-scale population studies
| Authors | Population | Frequency of 16p11.2 deletion | Percent | Sum | Frequency of 16p11.2 duplication | Percent | Sum |
|---|---|---|---|---|---|---|---|
| ASD Cohorts | |||||||
| 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 | 4/625b | 0.64% | |||||
| Weiss et al. (2008) | 751 multiplex autism families | 5/1441b | 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 | 4/362b | 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 | 5/1336b | 0.37% | 7/1336 | 0.52% | |||
| Other cohorts | |||||||
| 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 | 5/512e | 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% | |||
| Controlsf | |||||||
| 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% |
aOnly reporting de novo events
bThese represent the same 5 individuals from 4 AGRE families.
cOnly reporting genomic imbalances not found in controls
dIncludes smaller deletions and duplications within the interval
eIncludes a set of monozygotic twins
fSome reported controls are from the same populations and may not be independent.
gThis group has since published their control set, which does not contain any 16p11.2 abnormalites (Shaikh et al. 2009).