Table 2 Karyotype and SNP array abnormal results
Case NO. | Gestational age (weeks) | Ultrasound findings | Karyotype results | SNP array results | Length | Inheritance | Syndrome/phenotype | Pregnancy outcome |
|---|---|---|---|---|---|---|---|---|
Case 1 | 23+ 1 | None | 45,X | arr[hg19] Xp22.33q28(168,546–155,233,731)×1 | 155 Mb | de novo | Turner syndrome | preterm birth |
Case 2 | 21+ 2 | None | 46,XY | array[h19] (22)×2~3a | WC | de novo | Mosaic trisomy 22 | In pregnancy |
Case 3 | 23+ 3 | None | 47,XX,+mar[39]/46,XX [11] | arr[hg19] 9p24.3q13(208,454–68,216,577) × 4 | 68 Mb | de novo | mosaic tetrasomy 9p | TOP |
Case 4 | 28+ 2 | Hypoplastic Nasal Bone | 46,XX,del(4)(p15) | arr[hg19] 4p16.3p15.1(68,345–35,252,743) × 1 | 35.1 Mb | de novo | Wolf-Hirschhorn syndrome | TOP |
Case 5 | 22+ 4 | None | 46,XX | arr[hg19] 15q11.2(22,770,421–25,626,665) × 1 | 2.8 Mb | de novo | Prader-Willi syndrome | TOP |
Case 6 | 24+ 3 | None | 46,XY | arr[hg19] 22q11.21(18,648,855–21,800,471) × 1 | 3.1 Mb | de novo | DiGeorge syndrome | TOP |
Case 7 | 27+ 6 | None | 46,XY | arr[hg19] 7q11.23(72,624,203–74,143,240) × 1 | 1.5 MB | de novo | Willianms-Beuren syndrome | TOP |
Case 8 | 24+ 2 | Oligohydramnios | 46,XX | arr[hg19] 14q32.33(104,856,497–107,281,980)×1,19p13.3(260,912–4,226,075)× 3 | 2.4 Mb 4.0 Mb | de novo | delayed development,mental retardation | TOP |
Case 9 | 22+ 4 | None | 46,XY | arr[hg19] 3q26.33q27.2(182,374,672–185,041,523)×1 | 2.6 Mb | de novo | delayed development,mental retardation | TOP |
Case 10 | 31+ 3 | Polyhydramnios | 46,XX | arr[hg19] 15q14q21.3(35,077,111–54,347,324) hmzb | 19.2 Mb | de novo | Prader-Willi syndrome | TOP |
Case 11 | 24+ 3 | Tricuspid Regurgitation | 46,XX, inv.(4)(p14;q28)pat | arr[hg19] 5p15.31(6,752,756–7,429,552) × 4 | 670 Kb | unknown | VOUS | Intrauterine death |
Case 12 | 25+ 4 | Echogenic intracardiac focus | 46,XY | arr[hg19] 22q11.21(18,5 12,066–19,00 4772)×3 | 493 Kb | unknown | VOUS | Term birth |