Skip to main content

Advertisement

Table 2 Karyotype and SNP array abnormal results

From: Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction

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
  1. TOP termination of pregnancy, WC whole chromosome, VOUS variant of uncertain significance
  2. athe detected sample was uncultured amniocyte
  3. ba maternal UPD(15) was diagnosed by UPD tool