title: Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate.
abstract: Forty-two fetuses with non-homologous Robertsonian translocations were analyzed for uniparental disomy (UPD). One fetus with a de novo translocation t(13q;14q) had maternal isodisomy of chromosome 14. In a summary of the published data (including the present study), 315 cases were analyzed for UPD after prenatal diagnosis of balanced Robertsonian translocations, of these two fetuses had UPD, giving a risk estimate of 0.65% (CI 0.2-2.3). This risk justifies the recommendation of UPD analysis in fetuses diagnosed prenatally with Robertsonian translocations, with the emphasis on the chromosomes known to contain imprinted genes, such as 14 and 15. We also discuss the possibility of UPD in offspring of Robertsonian translocation carriers with normal karyotype. Based on the risk for UPD in fetuses with Robertsonian translocation we suggest to test these fetuses for UPD and to do so on amniocytes rather than chorionic villi when the risk for unbalanced karyotype is approximately 1%, comparable to the risk for UPD.
authors.affiliation: Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem 91120, Israel.
authors.forename: Shira
authors.initials: S
authors.lastname: Silverstein
authors.forename: Israela
authors.initials: I
authors.lastname: Lerer
authors.forename: Michal
authors.initials: M
authors.lastname: Sagi
authors.forename: Ayala
authors.initials: A
authors.lastname: Frumkin
authors.forename: Ziva
authors.initials: Z
authors.lastname: Ben-Neriah
authors.forename: Dvorah
authors.initials: D
authors.lastname: Abeliovich
mesh_terms: D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D015193:Chorionic Villi Sampling; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors; D014178:Translocation, Genetic; D024182:Uniparental Disomy / Q000175:diagnosis*
chemical_list: D004247:DNA