Table 2 Results of 15 cases with mosaic segmental duplication/deletion
From: Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array
Case No | Specimen | SNP array | Type | Size (Mb) | Karyotype | Indication |
|---|---|---|---|---|---|---|
30 | UCB | arr 1q31.3q44×2~3 | Dup | 52.24 | 46,XX,add(1)(q44)[6]/46,XX[20] | Neural tube malformation |
31 | UCB | arr 2p25.2p24.2×1~2 | Del | 11.42 | 46,XY,del(2)(p24.2p25.2)[6]/46,XY[14] | Unknown |
32 | AF | arr 15q11.2q13.1×2~6 | Dup | 7.61 | 48,XX,+2mar[30]/47,XX,+mar[28]/46,XX[7] | AMA |
33 | AF | arr 21q11.2q21.1×2~4 | Dup | 4.18 | 47,XY,+mar[13]/46,XY[15] | High T 21 risk |
34 | UCB | arr (12)×2~3, | Dup | 133.56 | 47,XX,+mar | Choroidal fissure cyst |
12p11.23p11.1×3 | Dup | 7.23 | ||||
35 | UCB | arr Xp22.33p22.31×1 | Del | 8.46 | 46,X,psu idic(X)(p22.3)[38]/45,X[3] | Unknown |
36 | AF | arr Yp11.32q11.222×0~2, | Del | 2.9 | 45,X[20]/46,X,idic(Y)(q11.22)[5]/46,XY[18] | Abnormal NIPT |
Yq11.222q11.223×0 | Dup | 20.76 | ||||
37 | UCB | arr 4p16.3p14×1, | Del | 37.12 | 45,XX,dic(4;22)(p11;p11.2) | UMM |
4p14q35.2×2~3, | Dup | 153.36 | ||||
(22)×2~3 | Dup | 34.17 | ||||
38 | UCB | arr 5p15.33p13.3×1, | Del | 33.34 | 46,XX,r(5)(p13q35) | Intrauterine growth retardation |
5p13.3q35.3×2~3 | Dup | 147.34 | ||||
39 | UCB | arr 1q32.2q44×3, | Dup | 38.79 | 46,XY,add(6)(p25) | Enlarged posterior cranial fossa |
3q11.1q29×2~3 | Dup | 99.87 | ||||
40 | Villus | arr Xp22.33q21.33×1~2, | Del | 95.60 | 45,X | IFD |
Xq21.33q28×1 | Del | 59.33 | ||||
41 | UCB | arr 11q23.3q25×2~3 | Dup | 15.92 | 46,XX | Enlarged pelvis |
42 | UCB | arr 11q13.4q25×2~3 | Dup | 63.24 | 46,XX | PCF |
43 | Villus | arr 11q14.3q24.1×2~3, | Dup | 31.54 | 46,XY | IFD |
11q24.1q25×1~2 | Del | 13.27 | ||||
44 | Villus | arr 3p26.3p26.1×1, | Del | 4.98 | 46,XY | IFD |
3p26.1p21.31×2~3, | Dup | 39.78 | ||||
6p25.3p22.1×2~3 | Dup | 28.02 |