Birth of a Mosaic Non–Down Syndrome Offspring to a 45,XY,t(21;21)(q10;q10) Homologous Robertsonian Translocation Carrier: A Case Report.

BACKGROUND: Homologous Robertsonian translocation carriers have been considered to have no chance, theoretically, of having a normal embryo. For these carriers, traditional genetic counseling would suggest using donated sperm or oocyte rather than using their own gametes. CASE: This study reports the case of a 45,XY,t(21;21)(q10;q10) homologous Robertsonian translocation carrier who had an approximately normal offspring with a mosaic karyotype: 46,XX,[86]/46, XX,t(21;21)[14]. CONCLUSION: Carriers of homologous Robertsonian translocations might have a chance of having normal offspring. For these carriers, besides traditional assisted reproductive technology such as using gametes from a donor, preimplantation genetic diagnosis might have clinical value.