Study subjects’ X chromosome cytologic breakpoints
| TSP | Karyotype (50) | BAV | COA | Age (years) | Height (cm) |
|---|---|---|---|---|---|
| 24 | 46,X,del(Xp11.2) | X | – | 59 | 138 |
| 33 | 46,X,del(Xp11.2) | – | – | 28 | 150 |
| 66 | 46,X,del(Xp10) | – | – | 59 | 146 |
| 163 | 46,X,del(Xp11.1) | – | – | 19 | 148 |
| 166 | 46,X,del(Xp11.23) | – | – | 16 | 150 |
| 203 | 46,X,del(Xp11.2) | – | – | 34 | 148 |
| 243 | 46,X,del(Xp11.2) | – | – | 24 | 149 |
| 281 | 46,X,del(Xp11.1) | X | – | 37 | 155 |
| 297 | 46,X,del(Xp11.3) | – | – | 28 | 156 |
| 328 | 46,X,del(Xp22.1) | – | – | 13 | 147 |
| 406 | 46,X,del(Xp11.1) | X | – | 49 | 143 |
| 362 | 46,X,der(X)t(X;14)(p11.4;q32.3) | X | X | 45 | 140 |
| 226 | 46,X,der(X)t(X;13)(p11.4;q14) | – | – | 13 | 142 |
| 324 | 46 X,der(X)t(X; acro)(p11.23; p12) | – | – | 18 | 150 |
| 408 | 46,X,del (Xp11.23) | – | – | 10 | 124 |
| 210 | 46,X,del(Xq26) | – | – | 22 | 173 |
| 34 | 46,X,del(Xq21.1) | – | – | 34 | 140 |
| 71 | 46,X,del(Xq11.23) | – | – | 33 | 152 |
| 444 | 46,X,del(Xq11.23) | – | – | 35 | 153 |
| 167 | 46,X,i(Xq10) | – | – | 23 | 134 |
| 201 | 46,X,i(Xq10) | X | – | 12 | 124 |
| 209 | 46,X,i(Xq10) | – | – | 39 | 156 |
| 214 | 46,X,i(Xq10) | – | – | 15 | 148 |
| 244 | 46,X,i(Xq10) | – | – | 46 | 141 |
| 253 | 46,X,i(Xq10) | – | – | 40 | 141 |
| 257 | 46,X,i(Xq10) | – | – | 7 | 121 |
| 261 | 46,X,i(Xq10) | – | – | 67 | 136 |
| 263 | 46,X,i(Xq10) | – | – | 35 | 145 |
| 286 | 46,X,i(Xq10) | – | – | 13 | 122 |
| 325 | 46,X,i(Xq10) | – | – | 17 | 145 |
| 350 | 46,X,i(Xq10) | – | – | 36 | 150 |
| 369 | 46,X,i(Xq10) | – | – | 18 | 160 |
| 449 | 46,X,i(Xq10) | – | – | 35 | 142 |
These data represent the conclusive report of the NICHD Turner Syndrome Genotype and Phenotype Study, and the analysis supersedes precursory observations. One Xp deletion subject (TSP 33) and two Xq deletion subjects (TSP 34, 71) were included in Loscalzo et al38; TSP 24, 33 66, 163, 166 203, 243, 34, 71 were included in Sachdev et al.10
BAV, bicuspid aortic valves; COA, aortic coarctation; TSP, Turner study participant identifier.