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 |