Clinical features of patients with rearrangements of the 15q11-q13 region
 |
| |||
Clinical features of patients with rearrangements of the 15q11-q13 region
| Patient | Rearrangement | Origin (chromosome) | Gender | Age at last evaluation | ASD | Developmental delay | Language | Epilepsy | Other features |
|---|---|---|---|---|---|---|---|---|---|
| Pathogenic rearrangements | |||||||||
| Patient 1 | idic(15) (pter-15q13.3, distal BP between BP4/BP5) | de novo (maternal) | F | 30 y | Autism | Severe MR | No language | Absence seizures, resistant to treatment (onset 13 y) | Feeding difficulties, psychomotor delay, dysmorphic features (large bulbous nose, dental malposition, prominent jaw), short stature |
| Patient 2 | interstitial duplication (BP2-BP3) | paternal | M | 6 y | Autism | Moderate MR | Speech delay, no phrases | No | Frequent otitis, mastication/swallowing difficulties, no dysmorphic features |
| Patient 3 | deletion BP2-BP3 (Class I) | de novo (maternal) | M | 24 y | Autism | Severe MR | No language | No | Sleep difficulties, delayed motor development, gait difficulties and inappropriate laughter during infancy, unilateral renal hypoplasia, strabismus, tongue protrusion, no dysmorphism, normal head circumference, normal brain CT, normal EEG |
| Patient 4 | paternal uniparental disomy | de novo (paternal) | M | 18 y | Autism | Severe MR | Limited language, no phrases | Absence seizures since early childhood; seizure-free at present | Normal motor development, hyperactivity, aggressiveness, sleep difficulties, minor dysmorphic features (slightly bulbous nose, dysplastic ears, widely spaced teeth), tapering fingers, hyperextension of finger joints, bilateral genu valgum, pyramidal syndrome, slightly spastic gait, no inappropriate laughter, normal head circumference |
| Copy number variants likely non pathogenic | |||||||||
| Patient 5 | deletion BP1-BP2 | paternal | M | 5 y | Autism | Severe MR | No language | No (but abnormal EEG) | Hypotonia, motor delay, frequent respiratory infections during infancy, macrocephaly, retrognathia, normal brain MRI |
| Patient 6 | deletion BP1-BP2 | maternal | F | 13 y | Autism | Normal IQ | No speech delay | No | Developmental coordination disorder, depression. The mother, who also carries the deletion, has panic disorder and depression |
| Patient 7 | deletion BP1-BP2 | paternal | F | 9 y | Autism | Normal IQ | No speech delay | No | ADHD combined type. Two older sisters also carry the deletion, one with ADHD and the other with dyslexia, while the younger healthy brother did not inherit the deletion. |
| Patient 8 | duplication BP1-BP2 | maternal | M | 5 y | Autism | Severe MR | Functional language | Yes (onset 9 m) | Normal brain MRI |
| Patient 9 | duplication BP1-BP2 | paternal | M | 15 y | Autism | Severe MR | No language | 1 absence seizure at 11 y | Neonatal overgrowth, macrocephaly and increased height persist, long narrow hands and feet |
| Patient 10 | deletion ex 1 UBE3A | paternal | M | 6 y | Autism | Mild MR | Severe language impairment | No | No dysmorphic features, normal neurological exam |
ADHD, attention deficit hyperactivity disorder; ASD, autism spectrum disorder; BP, breakpoint; CT, computed tomography; EEG, electroencephalogram; idic(15), isodicentric chromosome 15; MR, mental retardation; MRI, magnetic resonance imaging