Clinical Characteristics | Patient with subtelomeric imbalance confirmed by MLPA and Array (23 patients) N (%) | Patients without sub-telomeric aberrations (428 patients) N (%) |
---|---|---|
Gender, M/F | 10/13 | 300/128 |
Age | 1.9 y (6 m-7 y 10 m) | 4.2 y (4 m-29 y) |
Seizure | 3 (13.0) | 117 (27.3) |
Autistic features | 0 (0.0) | 0 (0.0) |
Family history of DD/MR | 3 (13.0) | 64 (15.0) |
Maternal history of miscarriages | 3 (13.0) | 9 (2.1) |
Microcephaly | 11 (47.8) | 104 (24.3) |
Macrocephaly | 0 (0.0) | 17 (4.0) |
Low birth weight | 7 (30.4) | 32 (7.5) |
Growth delay | 5 (21.7) | 104 (24.3) |
Minor facial and non-facial dysmorphism | 18(78.3) | 217 (50.7) |
Other congenital abnormalities | 9 (39.1) | 63 (14.7) |