Summary of results
| Case | Sex | Conventional karyotype* | Phenotype | Molecular imbalance | Imbalance size | Parental origin |
|---|---|---|---|---|---|---|
| *All translocations are de novo. | ||||||
| Abnorm, abnormality; BP, behavioural problems; DD, developmental delay; Dys, dysmorphic features; LD, learning difficulties; MCA, multiple congenital abnormalities; MED, multiple epiphysial dysplasia; SD, speech delay. | ||||||
| A1 | F | t(6:10)(q13;q21.2) | LD; Dys | Complex; del(10)(q21.2) | ∼5.5 Mb | del(10) de novo (paternal) |
| A2 | M | inv(6)(p21.3;q22.2), t(6;17)(p21;q23) | LD; epilepsy; MED | Complex | None detected | |
| A3 | F | t(11;12)(q21;p13.33) | LD; epilepsy | del and inv at 11q breakpoint | ∼6.2 Mb | del(11) de novo (paternal) |
| B1 | M | t(2;7)(q37.3;p15.1) | Severe DD, Dys | dup(3)(p26.3); translocation balanced | 1.1–2.9 Mb | Carried by father |
| B2 | F | t(2;5)(q31.1;q23.2) | Severe SD; autism | del(6)(q21); translocation balanced | 2.2–3.4 Mb | del(6) de novo (paternal) |
| B3 | F | t(4;9)(q25;q22.3) | LD, Dys; epilepsy | del(18)(q12.3); translocation balanced | ∼6 Mb | del(18) unknown (paternal) |
| C1 | M | t(17;22)(q21.1;q12.2) | LD, epilepsy, BP | Balanced | None detected | |
| C2 | F | t(2;7)(q37.2;q36.3) | Eye abnorm; Reiger’s syndrome | Balanced | None detected | |
| C3 | F | t(3;11)(q21;q12) | MCA (twin) | Balanced | None detected | |
| C4 | M | inv(11)pat, t(7;13)(q31.3;q21.3) | DD, autistic features, epilepsy | Balanced | None detected | |