Table 2.
Subject | Age/sex | Genotype | Nociception | Psychopathology | Overweight/obese | Mental Dx |
---|---|---|---|---|---|---|
1 | 10/M | Deletion: 22,858,513–29,066,320 | Pain insensitivity | ADHD, anxiety disorder, aggressive behaviors | BMI=22.6 | PDD-NOS |
2 | 21/F | Deletion: 27, 050, 622–29, 550, 113 | self—injurious behaviors | Major depression, generalized anxiety disorder | BMI=51.7 | Mild MR |
3 | 2.75/M | Deletion: 23,484,198–27,857,928 | N/A | Impaired behavior | mother BMI= 39.5 proband BMI=27.4 | GDD in proband; ID in mother |
4 | 16/M | Deletion: 23,002,186–27,956,720 | N/A | Adjustment disorder, Major depression, generalized anxiety disorder | BMI= 50.5 | PDD |
5 | 7/M | Deletion: 25,649,116–31,566,599 | Pain insensitivity | Anxiety, ADHD, temper tantrums, intolerance to frustration | BMI=28.3 | Moderate MR |
6 | 3/F | Duplication: 27,179,904–28,837,666 | N/A | Not reported | No | Moderate MR and dystonia |
42Ref | 13/M | Deletion | N/A | Not reported | Yes | MR |
12Ref | 25/F | Deletion | N/A | Mood disturbances, obsessive–compulsive behavior, temper tantrums, intolerance to frustration requiring antipsychotic medications | Yes | Mild/moderate MR |
12Ref | 14/F | Deletion | N/A | Chronic anxiety, poor acceptance of change, logorrhea, echolaly, poor social interactions, labile mood, and bouts of aggressiveness and motor agitation that required treatment with risperidone | Yes | PDD: Moderate/severe MR |
13Ref | 9/F | Position effect due to an inversion | Pain insensitivity | Complex neurobehavioral phenotype, repetitive behaviors, extreme hyperactivity, no concept of danger | Yes | Low IQ |
Abbreviations: ADHD: Attention Deficit Hyperactivity Disorder; PDD-NOS: Pervasive Developmental Delay, not objectively specified; MR: Mental retardation; GDD: Global Developmental Delay; ID: intellectual disability IQ: Intelligence quotient. All genomic coordinates according to human reference hg18.