Table 2.

Select Features of the 16p11.2 Recurrent Deletion

Feature% of Persons
w/Feature
Comment
Developmental delayMost (if not all)Degree varies significantly.
Psychiatric/behavioral issues>90%50% have ≥1 psychiatric/behavioral diagnoses. Most report symptoms of behavioral conditions.
Motor speech disorders80%Incl apraxia, dysarthria; majority mild-to-moderate, some minimally verbal
Language disorder80%-90%Broadly impaired receptive, expressive, pragmatic domains
Obesity75%Onset in early adolescence through adulthood
Motor coordination difficulties60%
Autistic features / autism20%-25%
Seizures25%
Vertebral anomalies21%May be assoc w/scoliosis
Hearing loss<11%Both sensorineural & conductive reported
Paroxysmal kinesigenic dyskinesia (PKD)≤9%Incl benign familial infantile seizures, PKD, & PKD w/infantile convulsions
Cardiac malformations6%

From: 16p11.2 Recurrent Deletion

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