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Table 2 Detailed clinical data and karyotype results at the loss of genome

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

Deletion region     Karyotype result
1p36.33 1 (2.4%)    46,XY,der(1)t(1;9)(p36.3;q34.3)mat,
2q23.1 1 (2.4%)    46,XY
4p16.3 (Wolf-Hirschhorn syndrome) 8 (19.5%)    46,XX,der(4)t(4;18)(p15.3;q11.2)mat
     46,XX,der(4)t(4;6)(p12;q25)
     46,XX,der(4)t(4;18)(p15.3;q11.2)mat
     46,XX,del(4)(p14)
     46,XX,del(4)(p16.1)
     46,XX,add(4)(p15.2?)
     46,XY,der(4)t(4;21)(p16.1;q22.2)pat
     46,XX,del(4)(p15.2)
5p15(Cri du chat syndrome) 4 (9.8%)    46,XX,r(5)(?p15.5?q3
     46,XX,del(5)(p13)
     46,XX
     46,XY,der(5)t(5;6)(p13.3;p21.3)mat
5q35.3(Sotos syndrome) 3 (7.3%)    46,XX or 46,XY
15q11.2(Prader willi syndrome) 1 (2.4%)    mos 45,X [12]/46,X,Yq
16p13.3(Rubinstein-Taybi syndrome) 2 (4.9%)    46,XX or 46,XY
22q deletion 21 (51.2%) 22q11.21(DiGeorge syndrome) 16 (39%) 46,XX or 46,XY
   22q11.21 partial deletion 4 (9.8%) 46,XX,t(5;17)(q31.1;p13.3)
     46,XX or 46,XY
   22q13 partial deletion 1 (2.4%) 46,XY,t(17;18)(p13.3;q21.1)pat
Total 41