| No. of cases |
Biological samples |
Karyotype |
% mosaicism |
Mean age of each group |
Clinical information |
| 7 |
Pb |
45,X |
0 |
7.4 |
Clinical suspicion of TS |
| 33 |
Pb |
45,X/46,XX |
5-10% |
33.5 |
Infertility /primary amenorrhea / gonadal dysgenesis |
| 1 |
Pb |
45,X/46,XX |
n.a. |
n.a. |
Diagnosis unknown |
| 19 |
Pb |
45,X/46,XX |
>10% |
32.5 |
Infertility / short stature |
| 7 |
Pb |
45,X/47,XXX/46,XX |
5-10% |
35 |
Infertility |
| 1 |
Pb |
45,X/47,XXX/46,XX |
n.a. |
n.a. |
Diagnosis unknown |
| 4 |
Pb |
45,X/47,XXX/46,XX |
>10% |
38 |
Infertility / poor development puberty |
| 1 |
Pb |
45,X,inv(21)(p12q22.1)/47,XXX,inv(21) (p12q22.1)/46,XX,inv(21) (p12q22.1) |
13,70% |
36 |
Family history with trisomy 21 |
| 1 |
Pb |
45,X/46,X,der(X) |
0 |
11 |
Clinical suspicion of TS |
| 1 |
Pb |
46,X,inv(X)(p22.1q13) |
0 |
29 |
Infertility |
| 1 |
Pb |
46,X,?dup(X)(q25q27) |
0 |
10 |
Diagnosis unknown |
| 1 |
Pb |
46,X,?dup(X)(q26) |
0 |
38 |
Difficulty in learning |
| 1 |
Pb |
46,X,del(X)(p11.2) |
0 |
11 |
Short stature |
| 2 |
Pb |
46,X,del(X)(q24) |
0 |
32.5 |
Infertility |
| 1 |
Pb |
46,X,inv dup del (X) (qter --->q24 :: p22.1 --->qter) |
0 |
34 |
Infertility |
| 2 |
Af |
45,X |
0 |
34 |
Cystic hygroma / Increased nuchal translucency / maternal triple screening / intra uterine growth restriction |
| 3 |
Ft |
45,X |
0 |
30.5 |
Fetal death after 12 weeks gestation |
| 1 |
P |
45,X |
0 |
27 |
Cystic hygroma |
| 1 |
Gt |
45,X |
0 |
3 |
Gonadal dysgenesis |
| 10 |
Of |
45,X |
0 |
33.4 |
Recurrent abortions |
Pb: Peripheral blood; AF: Amniotic Fluid; Ft: Fetal tissue; P: Placent; Gt: Gonadal tissue; Of: Ovular fragments |
