Table 2.
Karyotypes and ages at onset of amenorrhea in 42 representative POI cases with chromosomal abnormalities (11).
| No. | Age at the onset of amenorrhea (y) | Karyotypes | Turner Stigmata | Follicle Growth | Ovulation or Oocyte Retrieval |
|---|---|---|---|---|---|
| 1 | 14 | 45,X | – | – | – |
| 2 | 14 | 46,XX/45,X[29,1] | – | – | |
| 3 | 15 | 46,X,del(X)(p11.23) | + | + | |
| 4 | 15 | 46,XX,t(X;8)(q22;q22) | + | – | – |
| 5 | 16 | 45,X[19]/47,XXX[16] | + | + | |
| 6 | 17 | 46,X,add(X)(q22.3) | – | – | |
| 7 | 17 | 46,X,i(Xq) | + | – | – |
| 8 | 18 | * 1 | – | – | – |
| 9 | 18 | 45,X/46,X,psu dic(X)rea(X;X)(q22;p11) | + | – | – |
| 10 | 20 | * 2 | – | – | – |
| 11 | 20 | 45,X[3]/46,XX[97] | – | – | – |
| 12 | 20 | 47,XXX | – | – | – |
| 13 | 22 | 45,X[47]/47,XXX[3] | + | + | |
| 14 | 23 | * 3 | – | – | – |
| 15 | 24 | 46,X,del(X)q(22) | + | + | |
| 16 | 25 | 45,X[2]/46,XX[98] | – | – | |
| 17 | 26 | 46,X,del(X)(q21) | – | + | + |
| 18 | 27 | 45,X[34]/46,X,add(X)(q22)[16] | – | – | – |
| 19 | 27 | 45,X[5]/47,XXX[1]/46,XX[194] | – | – | |
| 20 | 28 | 45,XX,der(14;21)(q10;q10) | – | – | – |
| 21 | 28 | 47,XXX/46,XX | – | + | + |
| 22 | 29 | 46,X,t(X;20)(q22;p11.2) | – | + | – |
| 23 | 30 | 45,X/47,XXX | – | + | + |
| 24 | 30 | 45,X[2]/46,XX[198] | + | + | + |
| 25 | 30 | 45,X[3]/47,XXX[3]/46,XX[94] | – | – | – |
| 26 | 30 | 46,X,del(X)(q26)[46]/45,X[3]/47,XXX[1] | – | – | – |
| 27 | 30 | 46,XX,r(18)[23]/46,XX[27] | – | – | – |
| 28 | 32 | 46,XX,t(7;14)(q36;q14) | – | + | – |
| 29 | 32 | 46,XX/45,X/47,XXX | + | – | – |
| 30 | 33 | 45,X[4]/46,XX[45]/48,XXXX[1] | – | + | – |
| 31 | 33 | 45,X[5]/46,XX[92]/47,XXX[3] | – | + | – |
| 32 | 33 | 46,X,del(X)(q22.3) | – | + | + |
| 33 | 33 | 46,X,del(X)(q24) | + | – | – |
| 34 | 35 | 45,X[2]/47,XXX[2]/46,XX[96] | – | – | – |
| 35 | 35 | 45,X[8]/46,XX[42] | – | – | |
| 36 | 35 | 46,X,del(X)(q25) | + | + | |
| 37 | 36 | 46,X,i(X)(q10) | – | – | |
| 38 | 36 | 45,X[7]/46,XX[23] | – | – | |
| 39 | 37 | 45,X[4]/46,XX[96] | – | – | – |
| Robertson Translocation | |||||
| 1 | 28 | 45,XX,der(14;21)(q10;q10) | – | + | + |
| 2 | 29 | 45,XX,der(14;21)(q10;q10) | – | + | + |
| 3 | Irregular Periods | 45,XX,der(13;14)(q10;q10) | – | + | + |
* 1: 47,XXX [1]/47,XX,+mar1 [1]/47,XX,del (1) (q21),+mar2 [1]/46,X,del (X) (p11.2) [1]/46,XX,t (1; 10) (q23-25; p11.2-13) [1]/46,XX,t(7;14)(q36;11.2)[1]/45,XX,-20[1]/46,XX[194]
* 2: 46,XX,t(3;5;15;12)(3pter→3q21::5q15→5q22::12q13→12qter;5pter→5q15::3q21→3qter;15pter→15q13::5q22→5qter; 12pter→12q13::5q15or5q22::15q13→15qter)
* 3: 46,X,add(X)(q21 or q22),add(18)(p11)[44]/45,X[6].