Table 4.
Clinical features identified in individuals in the present and previous studies with 16p11.2 microdeletion
| System | Clinical finding | This report | Previous reportsa | ||
|---|---|---|---|---|---|
| (n = 18) | Frequency | (n = 35) | Frequency | ||
| Neurologic | Delayed development with below average intelligence | 18 | 100.0% | 34 | 97.1% |
| Speech & language deficits | 17 | 94.4% | 29 | 82.9% | |
| Hypotonia, with or without hypertonia | 7 | 38.9% | 2 | 5.7% | |
| Strabismus | 3 | 16.7% | |||
| Abnormal head imaging | 3/9 | 33.3% | 1 | 2.9% | |
| Seizures or staring spells | 2 | 11.1% | 8b | 22.9% | |
| Behavioral | Any behavioral problem | 14 | 77.8% | 21 | 60.0% |
| Poor attention or ADHD | 8 | 44.4% | 4 | 11.4% | |
| Aggression or outbursts | 7 | 38.9% | 4 | 11.4% | |
| ASD or autistic features | 9/16 | 56.3% | 16 | 45.7% | |
| Constitutional | Weight ≥ 97th percentile | 4 | 22.2% | 9 | 25.7% |
| Head | Frontal prominence or bossing | 5 | 27.8% | 1 | 2.9% |
| Face | Flattened midface | 5 | 27.8% | 9 | 25.7% |
| Synophrys | 3 | 16.7% | |||
| Bilateral colobomas | 1 | 5.6% | |||
| Broad or prominent nose | 4 | 22.2% | 3 | 8.6% | |
| Downturned mouth | 3 | 16.7% | 1 | 2.9% | |
| High palate | 3 | 16.7% | 3 | 8.6% | |
| Micro/retrognathia | 4 | 22.2% | 3 | 8.6% | |
| Ears | Hearing loss | 3 | 16.7% | 1 | 2.9% |
| Fleshy or prominent ears | 8 | 44.4% | 1 | 2.9% | |
| Hypoplastic, simple, or underfolded ears | 4 | 22.2% | 3 | 8.6% | |
| Low-set ears | 3 | 16.7% | 3 | 8.6% | |
| PE tubes | 4 | 22.2% | 1 | 2.9% | |
| Neck | Short, thick, or webbed | 4 | 22.2% | 4 | 11.4% |
| Hands | Tapered fingers | 4 | 22.2% | 2 | 5.7% |
| Abnormal thumbs - proximal, digitalized | 2 | 11.1% | 1 | 2.9% | |
| Feet | 2,3 syndactyly | 4 | 22.2% | 5 | 14.3% |
| Angled great toe or large sandal gap | 3 | 16.7% | |||
| Integument | Nevi or café au lait spots | 5 | 27.8% | ||
| Abnormal fingernails or toenails | 6 | 33.3% | 1 | 2.9% | |
| Heart | Abnormal aorta and/or aortic valve | 3 | 16.7% | 2 | 5.7% |
| Renal | Hydronephrosis | 2 | 11.1% | ||
| Cystic kidney | 1 | 5.6% | |||
| Musculoskeletal | Hypermobile joints | 4 | 22.2% | 1 | 2.9% |
| GI | Gastroesophageal reflux disease | 5 | 27.8% | 1 | 2.9% |
| Pyloric stenosis | 1 | 5.6% | 1c | 2.9% | |
aSubjects reported in (Sebat et al. 2007; Kumar et al. 2008; Weiss et al. 2008; Marshall et al. 2008; Ghebranious et al. 2007; Rosenberg et al. 2006; Shiow et al. 2008; Bijlsma et al. 2009; Fernandez et al. 2009), excluding relatives of probands and those reported in control groups in which clinical information was not provided
bFebrile seizures were also reported in a brother of a proband who also carried the microdeletion (Fernandez et al. 2009).
cPyloric stenosis was also seen in an uncle of a proband who also carried the microdeletion (Bijlsma et al. 2009).