Figure 1
Figure 2
Phenotype and Karyotype summary of cases with double Isochromosome X_
| Phenotype | Karvotype (percentage of cell) | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age | Psychomotor development | Stature | Spaced nipples | Low-set hairline | Others | Thyroid finction | Tanner | 45,X | 46X.i(X) | 47,X,i(X), i(X) | 48,X, i(X), i(X), i(X) i( | 49.X, X), i(X), i(X), i(X) | |
| Our case | 11 | Normal | -3SD | + | Posterior | Up-slanting palpebral fissures | Euthyroids | B1P0 | 31 | 43 | 26 | - | - |
| 25 | NA | <-3 SD | NA | NA | NA | Hyperthyroidism | B3P4 | 44,5 | 21,6 | 33,3 | 0,6 | - | |
| Melargno 1993(9) | 11 | NA | <-3 SD | NA | Posterior | Cubitus pigmented valgus, nevi | NA | B1P1 | 53,3 | 25,3 | 19,3 | - | - |
| Margaret all 2010(19et ) | 17 | NA | <-3 SD | NA | NA | NA | NA | developped Poorly | 4 | 88 | 8 | - | - |
| Howell 1976el (8) al, | 18 | Normal | <-3 SD | NA | NA | NA | NA | Development after therapy | 19 | 82 | 5 | - | - |
| Palmer and Reichmann 1976(20) | NA | NA | NA | NA | NA | NA | NA | NA | 50 5 18 | 48 90 78 | 2 5 2 | - - 2 | - - - |
| Niebuhr et al. 1977(21) | 10 | Normal | <-3 SD | + | NA | Labia majora clitoris absent, cubitus valgus. | NA | NA | 18 | 78 | 4 | - | - |
| 16 | NA | <-3 SD | - | + | NA | NA | B1 | 72 | 25 | 3 | - | - | |
| 8 | NA | NA | NA | NA | NA | NA | Pubic hair | 47 | 46 | 7 | - | - | |
| Lillian 1978(et 22al. ) | NA | NA | <-3 SD | - | + | Cubitus valgus | NA | NA | 36 | 62 | 2 | - | - |
| Huang 2020(etal. 23) | 30 | Normal | -2 DS | NA | NA | NA | hypothyroidism | NA | 1 | 49 | 1 | - | 49 |