Table 1.
All cases of Turner and Duchenne syndrome which have been documented in the literature since the 1960s.
| Paper ID | Year of Publication | Karyotype | Turner Phenotype | DMD Onset |
DMD Symptoms |
CPK at Onset (UI/L) |
Origin | Mutation DMD Gene |
|---|---|---|---|---|---|---|---|---|
| Chen et al. [30] | 2020 | 45,X | yes | 9 yrs old | typical | 6.566 | China | Familiar |
| Verma et al. [31] | 2017 | 45,X | yes | 5 yrs old | typical | 4504 | USA | De novo |
| Kaczorowska et al. [16] | 2016 | 45,X | yes | 14 months old | atypical | 20.451 | Poland | - |
| Wu et al. [27] | 2019 | 45,X | yes | 8 yrs old | typical | - | China | - |
| Bjerglund et al. [22] | 1984 | 45,X | yes | - | typical | - | Denmark | De novo |
| Chelly et al. [32] | 1986 | 45,X | yes | 2 yrs old | typical | - | France | De novo |
| Ou et al. [28] | 2010 | 46,X,i(X)(q10) | no | 4 yrs old | typical | - | China | De novo |
| Kinoshita et al. [33] | 1990 | 45,X/46,XX/47,XXX | incomplete | 52 yrs old | atypical | - | Japan | - |
| Wulfsberg et al. [29] | 1986 | 46,XY | no | 2 yrs old | typical | 7.555 | USA | De novo |
| Sano et al. [34] | 1987 | 45,X/46,XX | no | 5 yrs old | typical | 4.130 | Japan | Familiar |
| Satre et al. [35] | 2004 | 45,X/46,XX | - | Prenatal diagnosis | - | - | France | Familiar |
| Ferrier et al. [26] | 1965 | 45,X/46,XX | yes | 6 yrs old | typical | R49.000 | Switzerland | De novo |
| Bartolini et al. [36] | 1986 | 45,X/46,XX/47,XXX | - | 4 yrs old | typical | Elevated CPK | Brazil | Familiar |