Table 2.
Phenotype data of the 12 patients with autism spectrum and specific rearrangements
| Patient | Sex | Diagnosis | Mental retardation | Dysmorphism | Seizures | Aggressiveness | Other features |
|---|---|---|---|---|---|---|---|
| AUT21 | F | Autism | Moderate | No | No | No | |
| AUT24 | M | Autism | Moderate | No | No | No | Neurosensorial deafness (65 dB); diaphagmatic hernia (Bochdalek) |
| AUT31 | M | Autism | Severe | No | No | No | |
| AUT42 | M | Autism | Severe | No | No | Yesa | |
| AUT45 | F | Autism | Severe | No | Yes | Yes | Subcortical brain atrophy |
| AUT84 | M | Autism | Severe | No | Yes | No | Hyperekplexia or startle disease |
| AUT91 | M | Autism | Severe | No | No | No | |
| AUT96 | M | Autism | Severe | No | No | Yesa | |
| AUT138 | M | Autism | Severe | No | No | No | Hypermetropy (+5d), short stature (−2DS) |
| AUT150 | M | Autism | Moderate | No | No | No | Obsessive-compulsive disorder |
| AUT186 | M | PDD | Mild | Yes | No | No | Retrognatia |
| AUT195 | M | Autism | Mild | No | No | No | Unilateral neurosensorial deafness |
PDD, pervasive developmental disorder.
aOccasional self-injurious behavior.