Clinical findings in reported cases with chromosomal rearrangement involving chromosome 2 and/or 17
| Classical RS phenotype | Other findings | Cytogenetics | FISH data | References |
|---|---|---|---|---|
| + | None | t(2; 17)(q23; q23.3) | t(2; 17)(q24.1; q24.3) | Present case |
| + | Limb, ear abnormalities | t(2; 21)(q33.2;q21.2) | t(2; 21)(q32.3–q33.2) | Houdayer et al35 |
| + | Other skeletal abnormalities | t(13;17)(q22.1;q23.3) | Not described | Stalker et al36 |
| + | None | t(3;17)(q25→qter) | Not described | Luke et al34 |
| + | Ear abnormalities | t(5;17)(q15;q23) | Not described | Vintiner et al33 |