Table 3.
shows clinical manifestations of patients with 22q11.2 microdeletion (n = 9)
| Case | Age | Gender | Religion | Cardiac Abnormality | Extra cardiac Abnormality | Interphase FISH Result *RP5-882J5 (22q11.2) deleted |
|---|---|---|---|---|---|---|
| 1 | 96 months | Female | Muslim | TOF | FD, BD, LD/DD | 93% interphase cells with hemizygous microdeletion |
| 2 | 14 months | Male | Hindu | TOF | FD, HT, LD/DD | 98.5% interphase cells with hemizygous microdeletion |
| 3 | 33 months | Male | Hindu | TOF | FD, HT, SS, LD/DD | Mosaic; 8% normal interphase cells (metaphase: 2 without & 18 with hemizygous microdeletion) |
| 4 | 18 months | Male | Hindu | TOF | FD, CS, LD/DD | Mosaic; 15% interphase cells with hemizygous microdeletion (metaphase: 1 with & 9 without hemizygous microdeletion) |
| 5 | 75 days | Male | Hindu | TOF | FD, VPI, DD, HC | 96% interphase cells with hemizygous microdeletion |
| 6 | 55 days | Female | Hindu | TOF | FD, HC | 97.5% interphase cells with hemizygous microdeletion |
| 7 | 60 days | Male | Hindu | TOF | FD, HC | 94% interphase cells with hemizygous microdeletion |
| 8 | 36 months | Female | Hindu | TOF | FD, LD/DD | 95% interphase cells with hemizygous microdeletion |
| 9 | 10 months | Male | Hindu | TOF | FD, DD | Mosaic; 30% interphase cells with hemizygous microdeletion (metaphase: 3 with & 8 without hemizygous microdeletion) |
TOF = tetralogy of Fallot; FD = facial dysmorphism; LD/DD = learning difficulties/developmental delay; BD = behavioural disorder; HT = hypotonia; SS = short stature; CS = craniostenosis (metopic suture); HC = hypocalcaemia; VPI = velopharyngeal insufficiency
*Other 2 probes i.e., RP11-22M5 (22q11.22) & CTA-154H4 (22q11.21) were found dizygous (i.e., not deleted)