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Table 3 Detailed clinical data and karyotype results at the gain of genome

From: Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women

Duplication region N(%)    Karyotype results
1p36.33 3 (3.6%)    46,XX or 46,XY
3q29 13 (15.7%)    46,XX or 46,XY
     mos 45,X [14]/46,X,+mar [12]
     47,X,Yqh+,+ 21
     46,XX,der(10)t(3;10)(q21;p13)mat
     46,XY,add(8)(p21.3)
     mos 47,XY,15 ps+,+ 20 [14]/46,XY,15 ps + [36]
     46,XY,der(4)(pter→q?33::p?15.2 → pter)
     46,XX,der(21)t(4;21)(p16.1;q22.2)pat
     46,XX,+ 4,der(4)t(4;13)(q21.3;q12.3)pat.-13
5p15 2 (2.4%)    46,XY
     46,XY,t(4;5)(q25;p14.3)mat
7q11.23 3 (3.6%)    47,XX,+ 7
     46,XX
     mos 47,XY,+ 7 [39]/46,XY [11]
8q24 3 (3.6%)    47,XX,+der(14)t(8;14
     46,XY,der(20)t(8;20)(q23;p13)mat
     mos 47,XX,+ 8 [22]/46,XX [15]
9q22.3 2 (2.4%)    46,XY,der(9)inv.(9)(p12q13)t(9;13)(p22;q32)
     47,XX,+ 9
10p14 3 (3.6%)    46,XX,9qh+
     47,XX,+ 18
     mos 47,XY,+ 10 [43]/46,XY [3]
15q11.2 6 (7.2%)    
   15q11.2 4 46,XX or 46,XY
   15q24 2 46,XY
     46,XX,der(7)t(7;15)(q36.3;q15)
16p13.3 5 (6.0%)    mos 47,XY,+ 16 [24]/46,XY [7]
     46,XX or 46,XY
     47,XX,+ 16
17p13.3 4 (4.8%)    46,XX,t(2;8)(q35;q22)mat
     46,XX or 46,XY
17q21.31 1 (1.2%)    46,XY
22q 33 (39.8%)    
   22q11 15 (18.0%) 46,XX or 46.XY
     mos 47,XX,+ 7 [30]/46,XX [20]
     46,XY,1qh+,der(9)t(9;18)(p24;q21.3)pat
     47,XY,+der(22)t(13;22)(q34.1;q11.2)mat
   22q13 18 (21.7%) 46,XX or 46,XY
     47,XX,+der(22)t(20;22)(p13;q11.2)mat
     47,XY,+ 22
     47,XY,+ 18
     46,XY,der(15)t(15;22)(q26.1;q13.3)mat
     47,XX,+der(22)t(11;22)(q23.3;q11.2)mat
     mos 44,00,der(6)inv.(6)(p11.2q27)t(6;21)(q27;p11),
\der(13;14)(q10;q10)pat [26]/45,00,der(13;14)pqt [16]
Xq28 1 (1.2%)    46,XX
Total 83