Case no. [sample] | Clinical indication | Karyotype | MLPA (Region-Specific Assay, rsa) | aCGH findings (hg18) | Parental study | Follow-up |
---|---|---|---|---|---|---|
1 [AF] | aUS | 46,XY,der(7)t(7;8) (q33;q22.3)pat | rsa 8q24.3(P036)×3,7q36.3(P036)×1 | arr 8q22.3q24.3(105,474,143-146,175,291)x3, 7q33q36.3(134,972,470-158,811,468) x1 | 46,XY,t(7;8)(q33;q22.3) | Terminated |
2 [AF] | aUS | 46,XX,del(11)(q23.3)dn | rsa 11q25(P036)×1 | arr 11q24.1q25(121,377,483-134,439,406)x1 | Normal | Terminated |
3 [AF] | aUS | 46,XY,del(7)( q11.23q21.3)dn | Normal | arr 7q11.23q21.3(76,539,754-96,510,594)x1 | Normal | Terminated |
4 [AF] | aUS | 46,XX,dup(3)(q21.1q25.1) | Normal | arr 3q21.1q25.1(124,410,610-153,319,948)x3 | Normal | Terminated |
5 [AF] | MLPA | 46,XX | rsa 5p15(P245)×1 | arr 5p15.33(711,361-1,411,206)x1 | Normal | Term delivery |
6 [AF] | aMSS | 46,XY,del(2)(q37)dn | rsa 2q37.3(P036)×1 | arr 2q37.2(234,210,736-235,957,912)x3, 2q37.3(236,012,851-242,677,269)x1 | Normal | Terminated |
7 [CVS] | hSAB | 46,XY,der(11)t(8;11) (q24.1;q23.3)pat | rsa 8q24.3(P036)×3,11q25(P036)×1 | arr 8q24.13q24.3(125,657,117-146,265,147)x3, 11q23.3q25(116,350,093-134,432,412)x1 | 46,XY, t(8;11)(q24.1;q23.3) | Terminated |
8 [CVS] | hSAB | 46,XY,der(11)t(10;11) (q26.1;q24.1)pat | rsa 10q26.3(P036)×3,11q25(P036)×1 | arr 10q26.13q26.3(126,217,300-135,284,309)x3, 11q24.1q25(122,322,510-134,432,465)x1 | 46,XY,t(10,11)(q24.1;q26.1) | Terminated |
9 [CVS] | hSAB | N/A | rsa X(P095)x2,Y(P095)x1, 21(P095)x3,22p13(P036)×3, 22q13.3(P036)×3 | arr(X)x2,(Y)x1,(21,22)x3 | Normal | SAB |
10 [CVS] | hSAB | N/A | rsa X(P095)x2,Y(P095)x1, 10p15(P036)×3,10q26.3(P036)×3 | arr(X)x2,(Y)x1,(10)x3 | Normal | SAB |
11 [CVS] | hSAB | N/A | rsa 21(P095)x3,8p23.3(P036)×3, 8q24.3(P036)×3 | arr(8,21)x3 | Normal | SAB |
12 [CVS] | hSAB | N/A | rsa 2p25.3(P036)×3,2q37.3(P036)×3 | arr(2)x3 | Normal | SAB |
13 [CVS] | hSAB | N/A | rsa 2p25.3(P036)×3,2q37.3(P036)×3 | arr(2)x3 | Normal | SAB |
14 [CVS] | hSAB | N/A | rsa 21(P095)x3 | arr(21)x3 | Normal | SAB |