Table 2.
Pathogenic alterations in CDH patients of which the defect size was registered.
| Defect size (n) | Syndrome (n) | n | Death | Chromosome | Type | Inheritance | Zygosity | Genetic change |
|---|---|---|---|---|---|---|---|---|
| A (n = 10) | Wolf Hirschshorn Syndrome | 1 | NR | 4p156.3 | Loss | de novo | het | 46, XY FISH: ish del (4) (p16.3p16.3) (D4S96-) |
| Louys-Dietz syndrome V | 1 | NR | 14q24 | Frameshift | AD | het | NM_003239.4 (TGFB3): c.232del.G, p. (Glu78fs) | |
| Marfan syndrome | 1 | NR | 15q21.1 | Frameshift | AD | het | NM_000138.5 (FBN1):c1301_1302del, p. (Tyr434Serfs*17) | |
| Microdeletion | 1 | NR | 16p13.3 | Loss | de novo | het | 46, XY arr[hg18] 16p13.3 (154,014–174,381) x1 | |
| Arterial tortuosity syndrome | 1 | NR | 20q13 | Missense | AR | hom | NM_030777.4 (SLC2A10): c.127 6G>T, p. (Gly426Trp) | |
| Down syndrome | 4 | D (1), NR (3) | 21 | Aneuploidy | de novo | het | 47, XX / 47, XY + 21 | |
| Down syndrome | 1 | NR | 21 | Aneuploidy | ut | het | 46, XY, t (15;21) (p12; p12) | |
| B (n = 4) | Microduplication | 1 | NR | 4p15.2p14 | Gain | de novo | het | arr [hg18] 4p15.2p14 (224,500,018–38,700,366) x3 |
| Sotos syndrome | 1 | NR | 5q35.2 | Missense | de novo | het | NM_022455.5 (NSD1): c.5685C>G, p. (Cys1895Tyrp) | |
| Microduplication | 1 | NR | 7q31.33–36.3 | Gain | de novo | het | arr[hg19]7q31.33q36.3 (125839750_159124173) x3[0.2]/arr[hg19]7q31.33q36.3 (125839750_159124173) x4[0.1] | |
| Microdeletion | 1 | D | 8p23.1 | Loss | de novo | het | arr[hg18] 8p23.1 (8,139,051–12,619,015) x1 | |
| C (n = 5) | Fraser syndrome | 1 | NR | 9p22.3 | Splicing | de novo | het | NM_144966.7 (FREM1): c.5334 + 1G > A (r.spl?) |
| Microdeletion | 9p22.3 | Loss | Inherited | het | arr[hg18] 9p22.3 (14,871,409–14,938,830) x1 | |||
| Prader Willi | 1 | NR | 15q11 | Gain | de novo | het | arr[hg18]15q11.2q13.1 (20,319,702–26,143,385) x3 | |
| Microdeletion | 1 | NR | 17q12 | Loss | de novo | het | arr[hg19] 17q12 (34815551_36249430) x1 | |
| Congenital disorder of glycosylation | 1 | NR | Xp11.23 | Loss | de novo | het | NM_001042498 (SLC35A2): c.753delG, p.(Trp251fs) | |
| XY reversal | 1 | D | XY | ? | de novo | ? | –* | |
| D (n = 2) | Microdeletion | 1 | N | 15q26 | Loss | de novo | het | arr[hg18] chr15:80,689,404–82,938,351 x 1 and |
| 17p12 | het | arr[hg18] chr17:14049619–15497020 x1 | ||||||
| Microdeletion | 1 | D | 22q11.2 | Gain | ut | het | 47, XY, +der (22) t (11;22) (q23.3; q11.2) mat |
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.