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Table 1 Characterization of the 15 submicroscopic aberrations associated with chromosome 16 detected from 14 patients

From: Submicroscopic aberrations of chromosome 16 in prenatal diagnosis

Patients Indications Specimens Karyotypes SNP array results Size Inheritance Clinical significance Pregnancy outcome
1 Bilateral lateral ventricle dilatation Amniotic fluid 46,XN arr[GRCh37] 16p13.11 (15,058,820_16,309,046)× 3 1.25 Mb Paternal VOUS (likely benign) Live born infant, Normal development at 8 months
2 Echogenic bowel; mild tricuspid regurgitation Amniotic fluid 46,XN arr[GRCh37] 16p13.11 (15,058,820_16,309,046)× 3 1.25 Mb Unknown VOUS Live born infant, Normal development at 12 months
3 Echogenic bowel Cord blood 46,XN arr[GRCh37] 16p13.11 (15,171,146_16,309,046)×3 1.1 Mb Maternal VOUS (likely benign) Live born infant, physical retardation
4 Urorectal Septum Malformation Sequence Cord blood 46,XN arr[GRCh37] 16p13.11 (15,325,072_16,272,403)×3 947 kb Unknown VOUS TOP
5 AMA Amniotic fluid 46,XN arr[GRCh37] 16p13.11 (15,481,747_16,278,133)×3 796 kb De novo VOUS (likely pathogenic) Live born infant, normal development at 14 months
6 Bilateral lateral ventricle dilatation; echogenic bowel Cord blood 46,XN arr[GRCh37] 16p13.11 (15,422,960_16,508,123)× 1 1.0 Mb De novo Pathogenic TOP
7 Bemivertebra (L4) Cord blood 46,XN arr[GRCh37] 16p11.2 (29,428,531_30,190,029)× 1 761 kb De novo Pathogenic TOP
8 Lateral ventricle dilatation Cord blood 46,XN arr[GRCh37] 16p11.2 (29,567,296_30,190,029)× 1 600 kb De novo Pathogenic TOP
9 Hemivertebra (T12) Cord blood 46,XN arr[GRCh37] 16p11.2 (29,580,020_30,190,029)× 1 610 kb De novo Pathogenic TOP
10 Hydrocephalus, ventricle dilatation Cord blood 46,XN arr[GRCh37] 16p11.2 (29,591,326_30,176,508)×1 585 kb De novo Pathogenic TOP
11 Echogenic intracardiac focus Amniotic fluid 46,XN arr[GRCh37] 16p11.2 (32,024,388_33,800,323)×3 1.7 Mb De novo VOUS Live born infant, normal development at 22 months
12 AMA Amniotic fluid 46,XN arr[GRCh37] 16p12.2 (21,740,199_22,718,351)×1 978 kb Unknown VOUS Live born infant, normal development at 15 months
13 High risk for Down’s syndrome screening, Chromosomal abnormal child birth history: seq[GRCh37]dup(14) (q22.2q22.3) 1.65 Mb pat Amniotic fluid 46,XN arr[GRCh37] 16q23.3q24.1 (82,786,394_85,029,292)×1 2.24 Mb Maternal VOUS (likely benign) Live born infant, normal development at 9 months
14 FGR, VSD, aortic stenosis, left kidney dysplasia or absence, Echogenic intracardiac focus Amniotic fluid 46,XN arr[GRCh37] 16q23.2q24.3 (79,800,878_90,146,366) hmz,16p13.3p12.3 (94,807_19,302,326) hmz 19.2 Mb De novo Pathogenic TOP
10.3 Mb De novo Pathogenic
  1. AMA advanced maternal age, TOP termination of the pregnancy, FGR fetal growth restriction, VSD ventricular septal defect