Clinical and molecular characteristics of patients with Beckwith–Wiedemann syndrome displaying methylation defects at various imprinted loci
| Patient | C | E | F | 5 | 6 | 7 | 13 | 25 | 28 | 29 |
|---|---|---|---|---|---|---|---|---|---|---|
| ART, assisted reproductive technology; DZT, dizygotic twin; Exomp, exomphalos; F, female; ICSI, intracytoplasmic sperm injection; M, male, MI, methylation index; MZT, monozygotic twin; NA, not available; VSD, ventricular septal defect. | ||||||||||
| ART procedure | Yes | Yes | Yes | No | No | No | No | No | No | No |
| Sperm | Ejaculated | Ejaculated | Ejaculated | |||||||
| ICSI | No | Yes | No | |||||||
| Frozen embryo | No | No | No | |||||||
| Day of transfer | Day 3 | Day 2 | Day 2 | |||||||
| Phenotype | ||||||||||
| Sex | F | F | M | F | M | F | M | M | F | F |
| Gestational age (weeks) | 34 | 32/DZT | 36 | 37 | 38 | 33 | 29 | 37 | 37/MZT | 38/MZT |
| Birth height (cm/SD) | 48.5/+2 | NA | 54/+3.7 | 50/+0.8 | 47/−1.5 | 47/+1.1 | 32/−4.2 | 53/+2.4 | 44/−2.6 | 48.2/−0.9 |
| Birth weight (g/SD) | 2770/+3 | 2090/+1.6 | 2530/−0.2 | 3900/+2.8 | 2580/−1.4 | 2640/+3 | 810/−2.5 | 4170/+3.5 | 1870/−2.7 | 3050/−0.2 |
| Head circumference at birth (cm/SD) | 31.5/0.1 | 29/−0.4 | 33/0 | 33/−0.7 | 34/−0.3 | 32/+1.1 | 26/−0.4 | NA | 32/−1.5 | 33/−1.1 |
| Macroglossia | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Organomegaly | No | No | Yes | No | No | Yes | No | Yes | No | |
| Abdominal wall | exomp | exomp | No | No | umb | umb | No | exomp | umb | exomp |
| Hemihyperplasia | No | No | No | No | No | Yes | Yes | No | No | No |
| Ear abnormalities | No | Yes | Yes | Yes | Yes | No | No | No | Yes | Yes |
| Hypoglycaemia | No | Yes | Yes | No | No | Yes | NA | No | Yes | Yes |
| Facial naevus | No | No | No | Yes | Yes | Yes | Yes | No | No | Yes |
| Others | Developmental delay | Hypotonia | Speech retardation | |||||||
| Pyelic dilatation | Micropenis clinodactyly V | Micropenis clinodactyly V | Ovarian hernia | |||||||
| Cleft palate | VSD | Cardiomegaly | ||||||||
| Hepatoblastoma | Rhabdo myosarcoma | |||||||||
| Fetal alcohol syndrome | ||||||||||
| Molecular data | ||||||||||
| Demethylation of KCNQ1OT1/MI (%) | Yes/5 | Yes/0 | Yes/6 | Yes/7 | Yes/4 | Yes/6 | Yes/24 | Yes/4 | Yes/26 | Yes/1 |
| Demethylation ofIGF2R DMR2/MI (%) | Yes/25 | No/50 | Yes/14 | Yes/9 | No/53 | No/53 | Yes/28 | No/50 | Yes/28 | Yes/32 |
| Demethylation ofPEG1/MEST/MI (%) | No/45 | No/53 | No/54 | No/56 | Yes/3 | Yes/3 | No/51 | Yes/29 | No/56 | No/54 |
| Demethylation ofSNRPN/MI (%) | No/43.2 | Yes/39 | No/46 | No/51.3 | No/48.4 | No/50.6 | No/47.9 | No/46.2 | No/46.4 | No/46.9 |