Candidate loci for congenital diaphragmatic hernia
| Locus | Reported anomaly | Other phenotypic features | Reference | |||
| 1q | Del(1)(q32q42)de novo | Low set ears | 17 | |||
| Neck webbing | ||||||
| Hypospadias | ||||||
| Undescended testes | ||||||
| Bilateral equinovarus | ||||||
| Camptodactyly | ||||||
| 3q | Mosaic del(3)(q11.1q13.2)de novo | No | This case | |||
| Del(3)(q21q23)de novo | BPES | 16 | ||||
| 4p | Del(4)(p16)de novo | Wolf-Hirschhorn syndrome | 6 | |||
| del(4)(p16)de novo | Dandy-Walker malformation | 6 | ||||
| 8p | del(8)(p23.1)de novo | AVSD | 18 | |||
| del(8)(p23.1)de novo | Facial dysmorphism | 6 | ||||
| Dolichocephaly | ||||||
| Tricuspid stenosis | ||||||
| 8q | t(8;13)(q22.3;q22)mat | No | 7 | |||
| t(8;15)(q22.3;q15)de novo | No | 7 | ||||
| 12p | Mosaic tetrasomy 12p | Pallister-Killian syndrome | 19, 20 | |||
| 15q | t(5;15)(p15.3;q24)mat ?unbalanced | No | 21 | |||
| t(15;17)(q24.3;q23.3)pat unbalanced | No | 6 | ||||
| del(15)(q24qter) | No | 22 | ||||
| t(1;15)(q41;q21.2)de novo | Fallot's tetralogy | 23 | ||||
| Severe microphthalmia | ||||||