Table 5.
Literature Review of Other Related Medical Concerns for Individuals with Chromosome 15q11.2 BP1–BP2 Microdeletion Syndrome.
| Feature | Murthy et al. [15] | Doornbos et al. [16] | De Kovel et al. [29] | Von der Lippe et al. [34] | Burnside et al. [13] | Abdelmoity et al. [17] | Madrigal et al. [33] | Wong et al. [35] | Mullen et al. [43] | Cafferkey et al. [18] | Jahn et al. [42] | Usrey et al. [36] | Rudd et al. [37] | Jerkovich & Butler [14] | Total (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Seizures/epilepsy | 0/2 | 2/8 | 8/23 | 0/7 | 14/56 | 2/16 | 0/2 | 0/2 | 6/6 | 13/83 | 4/5 | 1/2 | 0/3 | 0/1 | 57/216 (26) |
| Cataracts | 0/1 | 0/9 | N/A | 0/7 | N/A | 0/16 | 0/2 | 1/2 | N/A | N/A | 0/3 | 0/2 | 0/3 | 1/1 | 2/46 (4) |
| Congenital heart defect | 0/1 | 2/9 | N/A | 0/7 | N/A | 0/16 | 0/2 | 2/2 | N/A | N/A | 0/3 | 0/2 | 0/3 | 0/1 | 4/46 (9) |
| Genital abnormalities | 0/1 | 2/9 | N/A | 1/7 | N/A | 0/16 | 0/2 | 0/2 | N/A | N/A | 0/3 | 0/2 | N/A | 0/1 | 3/46 (7) |
| Recurrent infections | 0/1 | 2/9 | N/A | 0/7 | N/A | N/A | 0/2 | 0/2 | N/A | N/A | 0/3 | 0/2 | N/A | 0/1 | 2/30 (7) |
| Ataxia/balance issues | 1/2 | 4/8 | N/A | 0/7 | 15/49 | N/A | 2/2 | 0/2 | N/A | N/A | 0/3 | 0/1 | 0/3 | 0/1 | 22/78 (28) |
| TE fistula | 0/1 | 0/9 | N/A | 0/7 | N/A | 0/16 | 0/2 | 1/2 | N/A | N/A | 0/3 | 0/2 | 0/3 | 0/1 | 1/49 (2) |
| Hearing loss/impairment | 0/1 | 1/9 | N/A | 0/7 | N/A | 1/16 | 0/2 | 0/2 | N/A | N/A | 0/3 | 0/2 | 0/3 | 0/1 | 2/49 (4) |
| Omphalocele | 0/1 | 1/9 | N/A | 0/7 | N/A | 0/16 | 0/2 | 0/2 | N/A | N/A | 0/3 | 0/2 | 0/3 | 0/1 | 1/49 (2) |
| Abnormal brain imaging | N/A | 0/4 | N/A | 1/2 | 20/56 * | 2/3 | N/A | N/A | N/A | N/A | 5/5 | 1/2 | 3/3 | N/A | 32/75 (43) |
* indicates cases with insomnia, abnormal brain MRI or EEG, etc.