Table 1 Results of conventional karyotyping and aCGH in prenatal cases with translocations or marker chromosomes
From: Clinical utility of array comparative genomic hybridisation in prenatal setting
Case | Karyotype | aCGH result |
|---|---|---|
1 | 46,XY,t(7;8;12)(q34;q21.1;q12)dn,inv(9)(p12q13)pat | 12p12.1(21,356,582-25,062,714)x1 |
2 | 46,xy,t(4;10)(p16.3;q21.2)dn | Normal profile |
3 | 46,XX,t(3;16)(p?14;p13)dn | Normal profile |
4 | 46,XY,del(4)(p15).ish del(4)(p16.3p16.3)(GS10K2/T7-,LSI WHS-) | 4p16.3p15.2(72,447–24,041,772)x1 |
5 | 46,XY,t(1;5)(q32;q22)dn | 2q24.3(163,875,903–166,239,903)x1 |
6 | 46,XY,add(20)(q13.3) | 7p22.3p14.1(54,185–38,450,394)x3 |
7 | 47,XY,+der(13)dn | 13q12.11q12.12(20,412,619–23,874,904)x4 |
8 | 46,XY,der(6)t(6;11)(q26;p11.2)pat | 6q27(164,600,652–170,921,089)x1, 11p15.5p11.2(210,300–44,934,960)x3 |
9 | 46,XX,t(3;11)(q21;q14.2) | Normal profile |
10 | 47,XX,+mar[6]/46,XX[50]a | Normal profile |
11 | 47 XY,+mar dn.ish idic(15)(D15Z4++) | Normal profile |
12 | 47,XX,+mar dn.ish der(14/22)(cep14/22+) | 22q11.1q11.21(17,397,498–18,628,078)x3-4 |
13 | 47,XY,+mar[20]/46,XY[30].ish der(Y)(DXYS129/DXYS153+,SRY+,wcpY+,DYZ1+,wcpY+,DYZ1+,TelXq/Yq+)dn | Yp13.32Yp11.2(10,701–6,592,868)1 ~ 2, Yq11.21q12(14,576,544–59,002,403) × 2 ~ 3, Yq12qter(59,028,692–59,335,913) × 1 ~ 2 |
14 | 47,XX,+mar mat.ish der (14/22)(D14Z1/D22Z1)x2,(Acro-P-Arms)x2 | Normal profile |