Summary of the clinical features of the 10 CHARGE fetuses
| Case | 1 (LAS) | 2 (B0S) | 3 (GAL) | 4 (BAR) | 5 (GOD) | 6 (LAN) | 7 (COQ) | 8 (BEL) | 9 (RAB) | 10 (DER) | Mean |
|---|---|---|---|---|---|---|---|---|---|---|---|
| N, normal; WG, weeks of gestation. | |||||||||||
| *Leydig cell rarefaction; †the increased male population and paternal age in this study were first documented by Blake et al.31 | |||||||||||
| Age/sex | |||||||||||
| Fetal age (WG) | 21 | 21 | 23 | 23 | 28 | 29 | 29 | 29 | 32 | 36 | 27.1 |
| Sex | M | M | M | M | M | M | F | M | F | F | 7M/3F† |
| Maternal age | 35 | 26 | 32 | 30 | 24 | 31 | 37 | 31 | 28 | 31 | 30.5 |
| Paternal age | 30 | 35 | 41 | 30 | 38 | 39 | 39 | 46 | 28 | 31 | 35.7† |
| Genetics | |||||||||||
| Karyotype | 46,XY | 46,XY | 46,XY | 46,XY | 46,XY | 46,XY | 46,XX | 46,XY | 46,XX | 46,XX | |
| FISH 22q11.2 (Tuple1) | N | N | N | N | N | N | N | N | N | N | |
| CHD7 nucleotide change | 2550_2554del | 2959C>T | 763C>T | 6157C>T | 4112_4113insT | 808delG | 5458C>T | 2959C>T | 2260_2266dup | 2584A>T | 100% |
| CHD7 protein change | K850fsX855 | R987X | Q255X | Arg2053X | N1371fsX1374 | A270fsX304 | P1820X | R987X | V754fsX764 | K862X | 100% |
| De novo? | Yes | ? | Yes | ? | ? | Yes | Yes | Yes | Yes | Yes | |
| CHARGE acronym | |||||||||||
| Coloboma | + | + | + | + | − | − | + | + | + | − | 70% |
| Heart malformations | + | + | + | + | + | + | + | + | + | − | 90% |
| Atresia choanal/cleft | AC | Cl | AC/Cl | Cl | Cl | − | AC/Cl | AC | AC | AC | 90% |
| AC unilateral/bilateral | B | U | U | B | B | B | |||||
| Cleft palate/lip | L+P | P | L+P | P | L+P | ||||||
| CNS anomalies | |||||||||||
| Arhinencephaly | + | + | + | + | + | + | + | + | + | + | 100% |
| Others CNS anomalies | + | + | + | + | + | + | + | + | − | − | 80% |
| Genital anomalies | − | +* | − | + | +* | +* | + | + | − | − | 60% |
| Ears | |||||||||||
| Anomalies of external ears | + | + | + | + | + | + | + | + | + | + | 100% |
| Agenesis/hypoplasia CSC | + | + | + | + | + | + | + | + | + | + | 100% |
| Others | |||||||||||
| Thymic hypo/agenesis | + | + | − | − | + | − | + | + | + | + | 70% |
| Limb anomalies | + | + | − | − | − | − | + | − | + | + | 50% |
| Renal anomalies | − | − | − | + | − | + | + | − | − | + | 40% |
| Skeletal anomalies | + | + | ? | − | − | + | − | − | + | − | 40% |
| Polyhydramnios | − | − | − | − | − | + | − | − | + | + | 30% |
| Oesophageal anomalies | − | − | − | − | − | − | − | − | + | + | 20% |
| IUGR | − | − | − | − | − | − | − | − | − | − | 0% |