Table 4.
Gross chromosomal aberrations detected in children with epilepsy forming the neurodevelopmental cohort
| Chromosome abnormality according to cytogenetic analysis | Chromosomal loci according to SNP array data | Aberration (copy number change) | Brief clinical description |
|---|---|---|---|
| 46,XX,add(3)(p26) | 3p26.3 | × 1 | Developmental delay, epilepsy, unsteady gait, developmental abnormalities: broad flattened face, cleft palate, short toes, sandal gap, syndactyly of II-III toes; structural heart defect |
| 3p26.3p24.3 | × 3 | ||
| 47,XX, + mar | 17p11.2q11.1 | × 2 ~ 3 | Developmental delay, epilepsy, biliary dysfunction, hypertelorism of the palpebral fissures, congenital clouding of the cornea of the right eye, strabismus, wide nose, low-lying auricles, ear appendages on the left; long QT, increase in mobility, volume and changed parenchyma of the kidneys |
| 17p11.2 | × 3 | ||
| 46,XX,der(11)?add(11)(p13)ins(11)(p13q21q23.3) | – | – | Developmental delay, epilepsy, developmental abnormalities: up-slanting palpebral fissures epicanthus, broad nasal bridge, epithelial coccygeal passage; congenital heart and celiac diseases |
| 46,XX,del(6)(q22.?2q23.?3) | 6q22.1q23.2 | × 1 | Developmental delay, epilepsy, developmental abnormalities: thin sparse hair, narrow face, hypotelorism of the palpebral fissures, enlarged middle part of the face, retrognathia, dys-plastic auricles, small teeth, brachydactyly, thin nails, thoracic kyphosis |
| 46,XY,del(15)(q11.2q1?3) | 15q11.2q13.1 | × 1 | Developmental delay, epilepsy, developmental abnormalities: flattened face, high forehead, ocular hypotelorism, high-arched palate, short neck, wobbly gait |