May 20th, 2018

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Birth of a Mosaic Non–Down Syndrome Offspring to a 45,XY,t(21;21)(q10;q10) Homologous Robertsonian Translocation Carrier: A Case Report
Authors:  Junhao Yan, M.D., Ph.D., Qian Zhang, M.D., Yanqin Chen, B.S.M., and Zi-Jiang Chen, M.D., Ph.D.
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.
Keywords:  chromosomal translocation; chromosome disorders; cytogenetics; directed gamete donation; genetic testing; homologous Robertsonian translocations; preimplantation diagnosis; preimplantation genetic diagnosis; preimplantation screening; translocation, genetic
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