Table 6 Genotypes and phenotypes of cases with genome wide paternal uniparental disomy (UPD) mosaicism
| Phenotype | Karyotype | Blood | CVS | Fibroblasts | Tumour | Specific tissue | Reference | |
| Normal placenta, polyhydramnion, high birthweight, postnatal growth retardation, hepatosplenomegaly, hypertrophic cardiomyopythy, umbilical hernia, hypoglycemia, bilateral phaeochromocytoma, muscular hypotonia, low average mental development | 46,XX | + | No | + | 162 (case 1) | |||
| Cystic placenta, high birthweight, adrenal cysts, small umbilical hernia, hyperinsulinaemic hypoglycaemia, hemangioendothelioma/hepatoblastoma, leg hemihypertrophy, linear hyperpgigmentation, mild developmental delay | 46,XX | + | 162 (case 2) | |||||
| Hemihypertrophy, Wilms tumour with pat UPD11p15 | 46,XX | No | + | Kidney | 163 | |||
| Transient neonatal diabetes mellitus, leg hemihypertrophy, capillary haemangioma, bowed ribs, muscular hypotonia, developmental delay, ataxia, seizures, abnormal pigmentation, hepatosplenomegaly | 46,XX | + | Urine, liver, adrenal, not in buccal cells | 164 | ||||
| Hypoglycaemia, leg hemihypertrophy | 46,XX | + | + | Pancreas | Not in normal pancreas | 165 (case 1) | ||
| Enlarged cystic placenta in one twin, spontaneous abortion | 46,XX/XY | No | 166 | |||||
| PMD, hepatic mesenchymal hamartoma | 46,XX | No | + | 167 | ||||
| PMD, IUGR, fetal liver cysts and haemangioma, normal growth and mental development | 46,XX | No | + | 171 (case 1) | ||||
| PMD, IUGR, normal development, capillary haemangiomas | 46,XX | Mesenchym, vessels | Not in trophoblast | 171 (case 2) | ||||
| Dizygotic twin pregnancy, PMD, IUGR, sib healthy | 46,XX | Mesenchym, chorion | 172 (case 1) | |||||
| Dizygotic twin pregnancy, PMD, IUGR, healthy | 46,XX | Mesenchym, chorion | 172 (case 2) | |||||
| Dizygotic twin pregnancy, PMD, IUGR, healthy | 46,XY | + | 173 | |||||
| PMD, IUGR, healthy | 46,XX | + | 174 |
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AC, amniocentesis; CVS, chorionic villi sampling; IUGR, intrauterine growth retardation; PMD, placental mesenchymal dysplasia.
