Table 2. Summary of genotype, body status, and bone mineral status of TS patients.
Patient ID | Age (years) | Genotype | Del/Ins | Physical position | Chromosomal band | Size | Height (cm) | Weight (kg) | BMI (kg/m2) |
---|---|---|---|---|---|---|---|---|---|
P1 | 20 | 45X | Del | ChrX: 168546-155233731 | Xp22.33-q28 | 155.07 Mb | 135.7 | 30.8 | 16.8 |
P2 | 18 | 47,XY,+mar | 155.07 Mb | 139.2 | 41 | 21.2 | |||
P3 | 21 | 45,X[86]/46,X,i(X)(q10)[14] | Del | ChrX: 168546-155233731 | Xp22.33-q28 | 155.07 Mb | 138.4 | 33.1 | 17.6 |
P4 | 17 | 45X | Del | ChrX: 168546-155233731 | Xp22.33-q28 | 155.07 Mb | 148.6 | 56.5 | 32.3 |
P5 | 18 | 45X | Del | ChrX: 168546-155233731 | Xp22.33-q28 | 2.50 Mb | 141 | 38 | 18.5 |
P6 | 18 | 45X/46XX | Ins | ChrX: 201725-2703662 | Xp22.33 | 65.05 Mb | 148 | 40 | 18 |
Del | ChrX: 90185870-155233731 | Xq21.31-q28 | 155.07 Mb | ||||||
P7 | 12 | 45X | Del | ChrX: 168546-155233731 | Xp22.33-q28 | 154.82 Mb | 145.4 | 33.1 | 15.7 |
P8 | 11 | 45,X/46,XY | Del | ChrX: 168546-154985789 | Xp22.33-q28 | 25.86 Mb | 122.1 | 22.5 | 15.1 |
Ins | ChrY:2915750-28775115 | Yp11.31-q11.23 | 292 kb | ||||||
P9 | 5 | 45,X[30]/46,X,+mar[21]/46,XY[47] | Del | ChrX: 154941868-155233731 | Xq28 | 118 kb | 99.3 | 16 | 16.2 |
Del | ChrY: 14432336-14549924 | Yq11.21 | 5.15 Mb | ||||||
Del | ChrY: 23653333-28799937 | Yq11.223-q11.23 | 155.07 Mb | ||||||
P10 | 16 | 45,X[65]/47,XXX[35] | Del | ChrX: 168546-155233731 | Xp22.33-q28 | 155.07 Mb | 153.9 | 55.3 | 23.3 |
P11 | 20 | 45X | Del | ChrX: 168546-155233731 | Xp22.33-q28 | 155.07 Mb | 140.6 | 41 | 20.4 |
P12 | 16.7 | 45X | Del | ChrX: 168546-155233731 | Xp22.33-q28 | 155.06 Mb | 155.7 | 55.2 | 22.8 |
P13 | 13 | 45X | Del | ChrX: 168551-155233098 | Xp22.33-q28 | 155.06 Mb | 123.5 | 25.3 | 16.6 |
P14 | 13 | 45,X/46,XY | Del | ChrX: 168551-155233098 | Xp22.33-q28 | 155.06 Mb | 129.8 | 28.8 | 17.1 |
P15 | 10 | 45X | Del | ChrX: 168551-155233098 | Xp22.33-q28 | 152.54 Mb | 118.9 | 21.1 | 14.9 |
P16 | 4 | 45,X,SRY(+) | Del | ChrX: 26934660-155233098 | Xp22.33-q28 | 11.22 Mb | 97.1 | 15 | 15.9 |
Del | ChrX: 2650424-13871751 | Xp11.31-Xq11.21 | 155.06 Mb | ||||||
P17 | 6 | 45X | Del | ChrX: 168551-155233098 | Xp22.33-q28 | 155.06 Mb | 98.9 | 16 | 16.4 |
Total TS cohort (n=17) | 14 ± 5.4 | 131.5 ± 18.9 | 33.5 ± 13.6 | 18.8 ± 4.3 | |||||
Control cohort (n=15) | 16 ± 3.9 | 160.0 ± 5.3 | 52.8 ± 5.0 | 16.0 ± 5.3 |
Abbreviations: Del, deletion; Ins, insertion.