Deletion region | Â | Â | Â | Karyotype result |
---|---|---|---|---|
1p36.33 | 1 (2.4%) | Â | Â | 46,XY,der(1)t(1;9)(p36.3;q34.3)mat, |
2q23.1 | 1 (2.4%) | Â | Â | 46,XY |
4p16.3 (Wolf-Hirschhorn syndrome) | 8 (19.5%) | Â | Â | 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%) | Â | Â | 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%) | Â | Â | 46,XX or 46,XY |
15q11.2(Prader willi syndrome) | 1 (2.4%) | Â | Â | mos 45,X [12]/46,X,Yq |
16p13.3(Rubinstein-Taybi syndrome) | 2 (4.9%) | Â | Â | 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 | Â | Â | Â |