Table 1.
Pathogenic alterations in CDH patients of which the defect size was not registered.
| Defect size (n) | Syndrome (n) | n | Death | Chromosome | Type | Inheritance | Zygosity | Genetic change |
|---|---|---|---|---|---|---|---|---|
| NR (n = 41) | Microdeletion | 1 | NR | 3p26.3-p25.3 | Loss | de novo | het | arr[hg18] 3p26.3-p25.3 (0–9398383) x1 |
| Microduplication | NR | 11q23.3-q25 | Gain | de novo | het | arr[hg18] 11q23.3-q25 (16192532–134452384) x3 | ||
| Microdeletion | 1 | NR | 5p15 | Loss | de novo | het | arr[hg19] 5p15 (0–37,299,510) x1, | |
| Microduplication | NR | 12p13.3 | Gain | de novo | het | arr[hg19] 12p13.31 (9,909,002–10,021,222) x 3 | ||
| Cornelia de lange | 1 | N | 5p13.2 | Missense | de novo | het | NM_1334333 (NIPBL): c.3574G>A; p. (Glu1192Lys) | |
| Microduplication | 1 | T | 7q11.23 | Gain | de novo | het | arr[hg18] 7q11.23 (72,701,018–74,143,000) | |
| Microduplication | 1 | NR | 8p23 | Gain | ut | het | 46, XY, der (8) t (3;8) (p23; p23.1) | |
| Microduplication | 1 | D | 9p24.3-p13.1 | Gain | de novo | het | arr[hg18] 9p24.3p13.1 (0–39,155,853) x4, arr[hg18]9p13.1p11.2 (39,155,853–46,468,856) x3 | |
| Microdeletion | 1 | T | 9q31.1q31.2 | Loss | de novo | het | arr[hg19] 9q31.1q31.2 (105,034,238–111,044,933) x1 | |
| Trisomy 9 | 1 | I | 9 | Aneuploidy | de novo | het | 47, XX, +9(20)/46, XX (4) | |
| Mosaic MYRF gene | 1 | N | 11q12.2 | Splicing | de novo | het | NM_001127392.2 (MYRF): c.46+2T>C(r.spl?) | |
| Pallister Killian syndrome | 3 | T (1), NR (2) | 12p10 | Gain | de novo | het | 47, XX/XY, +i (12) (p10) | |
| Microduplication | 1 | D | 12q24.3 | Gain | ut | het | 46, XY, der (12) t (11,12) (q23.3; q24.3) | |
| Microdeletion | 1 | T | 13q12 | Loss | de novo | het | 46, XY, del (13) (q12?) (8)/46, XY (35) | |
| Microdeletion | 1 | T | 13q21.31q32.3 | Loss | de novo | het | arr[hg19]13q21.31q32.3 (64,535,372–98,354,979) x1 | |
| Patau syndrome | 3 | T (1), D (1), NR (1) | 13 | Aneuploidy | de novo | het | 47, XX +13 | |
| Isochromosome 14q | 1 | N | 14q10 | Gain | de novo | het | 46, XX, i (14) (q10) (3)/46, XX (22) | |
| Microduplication | 1 | NR | 15 | ut | het | 46, XX, der (15) t (2;15) | ||
| Microdeletion | 1 | D | 15q26 | Loss | de novo | het | 46, XY, t (1;14) (p22; q13), inv (6) (p25q22), del (15) (q26) | |
| Edward's syndrome | 16 | T (3), I (1), N (2), D (3), NR (9) | 18 | Aneuploidy | de novo | het | 47 XX / XY + 18 | |
| Down syndrome | 1 | NR | 21 | Aneuploidy | de novo | het | 47, XX +21 | |
| Cat eye syndrome | 1 | T | 22q11.1q11.21 | Gain | de novo | het | arr [hg19] 22q11.1q11.21 (14,449,498–17,017,139) x4 | |
| XY reversal* | 2 | D (2) | XY | ? | de novo | het | ? |
Genetic tests included karyotyping, SNP array or Whole exome sequencing. AR, Autosomal recessive; XLR, X-linked recessive; CH, compound heterozygote; n, number of patients; ut, unbalanced translocation.