Cases | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|
References | 15 | 16 | 16 | 16 | 16 | 16 | 16 | 17 | 18 | 3 | Our case |
Genome coordinates (hg18/ hg19) | chr16:84447762-85815086 | chr16:83705765-85204004 | chr16:84275154-86275754 | chr16:84374208-85277007 | chr16:84402571-85435712 | chr16:82908199-86405076 | chr16:84648160-86478255 | chr16:85108709-86720212 | chr16:85728812-86831579 | chr16:85863000-87370500 | chr16:85220000-87340000 |
Karyotype | NA | NA | NA | NA | NA | NA | NA | – | – | – | – |
Deletions (del) [Mb] | 1.37 | 1.5 | 2.0 | 0.9 | 1.0 | 3.5 | 1.8 | 1.57 | 1.1 | 1.45 | 2.12 |
Female/Male | Male | Female | Male | Male | Female | Male | Female | Male | Male | Male | Female |
Inheritance | De novo | Maternal | NA | Maternal | Maternal | De novo | Maternal | NA | NA | NA | De novo |
Other pathogenic genes | IRF8; FOXL1 | FOXL1 | FOXL1 | FOXL1 | FOXL1 | FOXL1 | FOXL1 | IRF8; FOXL1 | IRF8; FOXL1; COX4I1 | IRF8; FOXL1; FENDRR | FOXL1; IRF8; COX4I1; FENDRR |
Prenatal fingdings | BH; PE; PHD; HLHS | NA | NA | NA | NA | NA | NA | PH; partial AVC defect; BH | Cystic hygroma; fetal hydrops; SUA | PHD; omphalocele; hydronephrosis and VSD | Widened PA; AVSD; CAV; FOC; mass in kidney; SD; ED |
Delivery GA. (W) | 37 | 28 | 22 | 38 | 37 | NA | NA | 26 | 22 | 39 + 1 | 23 + 6 |
Birth Wt. (g) | NA | 1091 | NA | 2900 | NA | NA | 3676 | 592.4 | NA | 2920 | NA |
Respiratory findings | ACD/MPV | ACD/MPV; PL | – | ACD/MPV; ECMO dependent | ACD/MPV; LP; hypoxemia; ECMO dependent | ECMO dependent | ACD/MPV | ACD/MPV | – | ACD/MPV | NA |
LDS | – | – | – | – | – | – | – | – | – | – | – |
Cardiac findings | HLHS; PVA; small main PA; VSD; ASD; PDA; PLSVC; CP | PDA | HLHS | TOF; PDA; PPHN | HLHS | IAA; dilated PA; large PDA; small LV; PH | PDA; PPHN | Partial AVC malformation; Small PA | – | PPHN; ASD; VSD | NA |
Genitourinary findings | Hydronephrosis; hypospadias | – | Dilated renal pelvices | BH | Mild uretero-pelvic caliectasis | Bilateral renal pelviectasis | – | Bilateral dilatation of the PS with bilateral US | – | – | NA |
Gastro-intestinal findings | IM; ectopic cecum and appendix | EA; TSF; ectopic anus | – | DA; AP; imperforate anus | – | – | Adhesions between bowel loops、 duodenum and gallbladder | AP; duodenal dilatation proximal to the pancreas | – | Lack of peristalsis | NA |
Other findings | HP; flat nasal bridge; HM; decreased muscle tone | SUA | – | SUA | T11 butterfly vertebra; cleft lip; cleft palate; brachycephaly; SUA | Posterior rib fusions: 10/11 (right side), 9/10 and 11/12 (left side) | – | Intrauterine infection | Low set ears and soft tissue edema of the neck | Coagulopathy; metabolic acidosis | NA |
LS | 3 days | 1 days | / | 40 days | 15 days | 18 days | 25 days | 16 h | / | 13 days | / |