Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate |
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Authors: | Shira Silverstein Israela Lerer Michal Sagi Ayala Frumkin Ziva Ben-Neriah Dvorah Abeliovich |
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Institution: | Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem 91120, Israel |
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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 ∼1%, comparable to the risk for UPD. Copyright © 2002 John Wiley & Sons, Ltd. |
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Keywords: | uniparental disomy (UPD) Robertsonian translocation prenatal diagnosis |
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