a Overview of the demographic, genetic, medical and developmental data
| Individuals |
|||||||||
|---|---|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | ||
| Age, sex | 4.7 ys, male | 5.11 ys, female | 7.2 ys, female | 8.2 ys, female | 12.5 ys, male | 13.5 ys, female | 14.4 ys, male | 17.10 ys, female | |
| Deletion size | 22q13.33ter 48,517,389–51,178,515 2,661 kb |
22q13.33ter 51,123,497–51,220,923 97 kb |
22q13.33ter 42,979,524–49,567,789 6.6 Mb |
22q13.33ter − 3 Mb |
22q13.33ter 49,284,146–49,501,571 217 kb |
22q13.33ter 51,123,497–51,220,923 97 kb |
22q13.33ter − 3–4 Mb |
22q13.33ter 49,236,944–49,496,075 259 kb |
|
| Gene content | SHANK3, ACR + 44 others | SHANK3, ACR, RABL2B + 2 others | SHANK3 + unknown | SHANK3 + unknown | SHANK3 + 11 other genes | SHANK3, ACR, RABL2B + 2 others | SHANK3 + unknown | SHANK3 + unknown | |
| Inheritance | De novo | De novo | De novo | De novo | De novo | Maternal | De novo | De novo | |
| Other genetic features | Dupl3q26.1 126.307.728–163.133.540 826 kb Paternally inherited |
NA NA NA NA |
NA NA NA NA |
Dupl1q42.2q44 15 Mb De novo DelXq27.3, maternally inherited |
DuplXp22.33/duplYp11.32 226 kb Maternally inherited |
NA NA NA NA NA |
NA NA NA NA NA |
Del17q11.2 26.449.432–26.512.223 62 Mb De novo Exon 2 and 3 of NF1 deleted |
|
| Array platform | OGT 180K | OGT 180K | OGT 180K | Illumina Cyto-SNP12 v2.1 chip (SNP array) | OGT 180K | OGT 180K | Platform unknown (UGent) | OGT 180K | |
| Dsymorphism | Fine blonde hair, pale, long eyelashes, fine nose, small chin, cleft uvula, somewhat larger, low-set ears | NA | Strabismus | NA | NA | Strabismus | NA | Macrocrania, café au lait spots | |
| Growth and developmental parameters | |||||||||
| Age | 4.1 ys | NA | NA | 6.1 ys | 5.1 ys | 6 ys | NA | 1.5 ys | |
| Weight, kg (Pc) | 17.8 (50–70) | NA | NA | 20 (25–50) | 17.7 (25) | 19.3 (10) | NA | NA | |
| Length, cm (Pc) | 107 (50–75) | NA | NA | 114 (25–50) | 105 (10) | 114 (3–10) | NA | NA | |
| OFC, cm (Pc) | 45.5/2.3 ys (3) | NA | NA | 53.4 (90–97) | 52 (75) | 49.9 (25) | NA | 48.9 (90–97) | |
| Somatic diagnoses | Broad aorta, hypotonia | Hearing loss (right/left), juvenile palmoplantar dermatosis | Hypotonia | NA | Nervus sebacceus | NA | NA | NF1 | |
| Neuroimaging, age | NA | NA | NA | NA | NA | MRI, 2.8 ys, normal | NA | NA | |
| Developmental testing, age* | BSID-II/18 mo (9 mo) BSID-III/3.4 ys (11 mo) BSID-III/4.5 ys (12 mo) |
BSID-II/2.11 ys (17 mo) BSID-III/4 ys (27 mo) BSID-III/5.10 ys (25 mo) |
BSID-II/2 ys (6 mo) NA | BSID-II/25 mo (11.5 mo) BSID-II/3.10 ys (15 mo) BSID-II/5.4 ys (20 mo) BSID-III/12.3 ys (21 mo) |
BSID-II/23 mo (15 mo) BSID-II/2.4 ys (16 mo) BSID-II/3.3 ys (16 mo), OI <55 BSID-III/13.5 ys (13 mo) |
NA | BSID-II/2. 3 ys (11 mo) | ||
| Language testing, age* | ODC/3.4 ys (R/E 5–6 mo) BSID-III/3.4 ys (R 5 mo, E 7 mo) | NA | NA | NA | NNST/26 mo (R+E <12 mo) NNST/38 mo (R <12 mo, E 15 mo) |
Reynell/3.4 ys (1.5 ys) NNST/4.8 ys (R 12 mo, E <Pc1) | NA | NA | |
| Motor testing, age* | BSID-III/3.4 ys (G 18 mo, F 8 mo) | NA | NA | NA | PDMS/26 mo (18 mo) PDMS/38 mo (G 18 mo, F 36 mo, VMI 16 mo) |
NA | NA | NA | |
| Current level of functioning | |||||||||
| ID | Severe | Severe | Profound | Severe | Severe | Severe | Profound | Severe | |
| Language | No speech | Short sentences | No speech | Sounds | Short sentences | Single words | No speech | No speech | |
| Motor function | Walking | Walking | Walking with assistance | Walking | Walking | Walking | Walking | Walking | |
| Psychotic symptoms | − | − | − | − | − | − | − | − | |
| Psychiatric diagnosis, age | NA | NA | NA | NA | NA | ADHD, 5 ys PDD, 9 ys | NA | NA | |
| Current psychiatric medication | NA | Unknown | 3× Depakine 1× Furadentine | Unknown | NA | 1× Equasym XR 10 mg | 2 × 7 drops Dipiperon 2 coffee spoons Omeprazole | 2 × Seroquel XR 200 mg | |