Table 1.
Phenotypes of neuropsychiatric CNVs. These CNVs were selected on the basis of being robustly associated with neuropsychiatric conditions, and for being frequently diagnosed in medical genetic settings [29••,55]. It should be highlighted that the phenotypes listed below are not exhaustive, but highlight important features and link to useful references for clinicians and researchers
| Locus | Copy number change | Neuropsychiatric | Physical health | References |
|---|---|---|---|---|
| 1q21.1 | Deletion | ADHD | CHD | [69, 70, 71, 72] |
| ASD | Microcephaly | |||
| Epilepsy | Strabismus | |||
| ID | Facial dysmorphia | |||
| Mood Disorders | ||||
| SCZ | ||||
| 1q21.1 | Duplication | ADHD | CHD (inc ToF) | [69, 70, 71, 72, 73] |
| ASD | Macrocephaly | |||
| GAD | Facial dysmorphism | |||
| ID | ||||
| Mood Disorders | ||||
| SCZ | ||||
| 2p16.3 (NRXN1) | Deletion | ASD | CHD | [74, 75, 76] |
| ADHD | Craniofacial abnormalities | |||
| BPD | Seizures | |||
| Dysexecutive syndrome | ||||
| ID | ||||
| SCZ | ||||
| 3q29 | Deletion | ASD | GI abnormalities | [77, 78, 79, 80, 81] |
| BPD | Microcephaly | |||
| DD | Cleft palate | |||
| SCZ | Chest wall deformity | |||
| Cardiac malformations | ||||
| 15q11.2 | Deletion | DD | CHD | [82, 83, 84, 85] |
| Epilepsy | Ataxia/balance issues | |||
| NDDs | Facial dysmorphism | |||
| SCZ | ||||
| SLD | ||||
| 15q13.3 | Deletion | ASD | Mild facial dysmorphism | [8,86] |
| Epilepsy | Skeletal defects | |||
| OCD | ||||
| SCZ | ||||
| 16p11.2 | Deletion | ADHD | High BMI | [30,87] |
| ASD | Hypotonia | |||
| ID | Macrocephaly | |||
| 16p11.2 | Duplication | ADHD (Dup > Del) | Low BMI | [30,87,88] |
| ID | Microcephaly | |||
| SCZ | ||||
| 22q11.2 | Deletion | Anxiety Disorders | CHD | [32,47,51,58,61,89, 90, 91] |
| Early-onset Parkinson’s Disease | Craniofacial abnormalities | |||
| Psychotic disorder | Hypoparathyroidism | |||
| Immunodeficiency | ||||
| 22q11.2 | Duplication | ASD | CHD | [26••,92, 93, 94] |
| Protective against schizophrenia | Craniofacial abnormalities | |||
| Gastric reflux |
ASD: Autism Spectrum Disorder, ADHD: Attention Deficit Hyperactivity Disorder, BPD: Bipolar Disorder, ID: Intellectual Disability, DD: Developmental Delay, CHD: Congenital Heart Disease, GAD: Generalised Anxiety Disorder, GI: Gastrointestinal, ID: Intellectual Disability, NDDs: Neurodevelopmental Disorders, SCZ: Schizophrenia, SLD: Specific Learning Disorder.