Table 6 Genotypes and phenotypes of cases with genome wide paternal uniparental disomy (UPD) mosaicism
PhenotypeKaryotypeBloodCVSFibroblastsTumourSpecific tissueReference
Normal placenta, polyhydramnion, high birthweight, postnatal growth retardation, hepatosplenomegaly, hypertrophic cardiomyopythy, umbilical hernia, hypoglycemia, bilateral phaeochromocytoma, muscular hypotonia, low average mental development46,XX+No+162 (case 1)
Cystic placenta, high birthweight, adrenal cysts, small umbilical hernia, hyperinsulinaemic hypoglycaemia, hemangioendothelioma/hepatoblastoma, leg hemihypertrophy, linear hyperpgigmentation, mild developmental delay46,XX+162 (case 2)
Hemihypertrophy, Wilms tumour with pat UPD11p1546,XXNo+Kidney163
Transient neonatal diabetes mellitus, leg hemihypertrophy, capillary haemangioma, bowed ribs, muscular hypotonia, developmental delay, ataxia, seizures, abnormal pigmentation, hepatosplenomegaly46,XX+Urine, liver, adrenal, not in buccal cells164
Hypoglycaemia, leg hemihypertrophy46,XX++PancreasNot in normal pancreas165 (case 1)
Enlarged cystic placenta in one twin, spontaneous abortion46,XX/XYNo166
PMD, hepatic mesenchymal hamartoma46,XXNo+167
PMD, IUGR, fetal liver cysts and haemangioma, normal growth and mental development46,XXNo+171 (case 1)
PMD, IUGR, normal development, capillary haemangiomas46,XXMesenchym, vesselsNot in trophoblast171 (case 2)
Dizygotic twin pregnancy, PMD, IUGR, sib healthy46,XXMesenchym, chorion172 (case 1)
Dizygotic twin pregnancy, PMD, IUGR, healthy46,XXMesenchym, chorion172 (case 2)
Dizygotic twin pregnancy, PMD, IUGR, healthy46,XY+173
PMD, IUGR, healthy46,XX+174
  • AC, amniocentesis; CVS, chorionic villi sampling; IUGR, intrauterine growth retardation; PMD, placental mesenchymal dysplasia.