Table 2.
Abnormal chrosomomal results in individuals with CDH
| Patient ID | Gender | Cohort | Side of Lesion | Isolated/Non-isolated | Discharge status | Source | Result | detect method | Inheritance | Additional anomalies |
|---|---|---|---|---|---|---|---|---|---|---|
| 04-0030 | F | prospective | Left | Non-isolated | Died | Amniocentesis | 47, XX +21 | Karyotype | de novo | ASD, VSD |
| 05-0007 | M | prospective | morgagni hernia | Non-isolated | alive | Blood | 47, XY +21 | Karyotype | de novo | dysmorphic facial features consistent with Down syndrome |
| 05-0004 | M | prospective | Left | Non-isolated | alive | Blood | 47, XY, +18[20]/46, XY[20]; 18p11.32-q23 (138,763-76,111,164)x3 | Karyotype/clinical chromosomal microarray | de novo | VSD |
| 01-0118 | M | prospective | Left | Non-isolated | Died | Blood | 46 XY, +der(22)t(11;22)(q23.3;q11.2)mat; 11q23.1-q25(116187461-134452384)x3; 22q11.1-q11.21(14432516-18709056)x3 | Karyotype/research chromosomal microarray | Maternal | Dandy Walker malformation, Hirschprung’s disease, Preauricular pits, bilateral malformed thumbs, Pulm HTN |
| 01-0437 | F | prospective | Left | Non-isolated | alive | Blood | 46, XX, add(7)(p22).ish der(7)t(7;12)(p22;p11.2); 7p22.3(52899-2004194)x1; 12p13.33-p11.22(20691-28622103)x3 | Karyotype/clinical chromosomal microarray | Paternal | bilateral postaxial polydactyly, dysmorphic facial features |
| 01-0162 | F | prospective | Left | Non-isolated | alive | Diaphragm | 46 XX, del(8)(p23.1p23.1).ish del(8)(pter+); 8p23.1(8043620-11883409)x1 | Karyotype/research chromosomal microarray | de novo | ASD, VSD, Incomplete myelination in anterior limb of right and left |
| 07-0010 | M | prospective | Left | Isolated | Died | Amniocytes | 46, XY, del(8)(p23.1); 8p23.2-p22 (192262-15227167)x1 | Karyotype/clinical chromosomal microarray | de novo | None |
| 01-0024 | M | prospective | Left | Non-isolated | Died | Blood | 46, XY, .ish del(13)(q34)(subtel13-, ZIC2+); 13q33.3-q34(107348518-114142980)x1 | Karyotype/research chromosomal microarray | de novo | ASD, VSD, AV Canal, Absent right kidney with low-lying left kidney, left thumb aplasia, right talipes equinovarus, vertebral anomalies - gracile ribs and fusion of multiple vertebral bodies, scoliosis, contractures of right hand, Pulm HTN |
| 01-0581 | F | fetal | Left | Non-isolated | pregnancy termination | liver | 1q12-qter(142693887-247249716)x3 | clinical chromosomal microarray | de novo | CHD, agenesis of the corpus callosum, bilatera; ventriculomegaly, micrognathia, retrognathi posterior displacement of the hard and soft palate, posterior displacement of the tounge, bilateral low set ears, left sided microtia (small vestigial structure and absence of external ear canal), right sided underdevelopment of the helix, bilateral finger contractures |
| 01-0375 | M | fetal | Left | Non-isolated | pregnancy termination | CVS | 1p13.3-p12 (107379866-119388162)X1 | clinical chromosomal microarray | de novo | VSD, Abnormal posterior fossa with inferior splaying of cerebellar vermis, thickened nuchal fold (0.7 cm), no measurable cisterna magna, left absence of lens and orbit, left club foot, shorten long bones, flatten face, umbilical cord cyst |
| 01-0536 | F | retrospective | Left | Isolated | alive | Blood | 15q25.2(80999115-82497270)x1 | research chromosomal microarray | de novo | None |
| 01-0454 | F | retrospective | Left | Isolated | alive | Blood | 17q12(32058213-33668463)x1 | research chromosomal microarray | de novo | None |
| 02-0008 | F | retrospective | Left | Non-isolated | alive | Blood | 17q12(31897638-33362422)x1 | research chromosomal microarray | de novo | abnormal newborn hearing screen |
| 05-0005 | F | retrospective | Left | Non-isolated | alive | Diaphragm | 6p25.3-p25.2(1190603-2762165)x1 | research chromosomal microarray | de novo | VSD, Dandy walker malformation, cleft palate, optic nerve hypoplasia |
| 07-0005 | F | prospective | Right | Isolated | Died | Diaphragm | 11p15.4(6733461-6850699)x1 | research chromosomal microarray | de novo | None |
| 01-0015 | F | retrospective | Left | Isolated | alive | Blood | 14q24.1(68911762-69007402)x3 | research chromosomal microarray | de novo | None |
Abbreviation: F, female; M, male; NA, not available; CVS, chorionic villus sampling; ASD, atrial septal defect; VSD, ventricular septal defect; AV Canal, Atrioventricular canal; Pulm HTN, pulmonary hypertension; CHD, congenital heart disease.