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Successful PGD cycles for mosaic Robertsonian translocation carriers provide insights into the mechanism of formation of the derivative chromosomes

Authors

  • Susan M. Bint,

    Corresponding author
    1. Cytogenetics Department, GSTS Pathology, Guy's Hospital, London, UK
    2. Guy's and St. Thomas' Centre for Preimplantation Genetic Diagnosis, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK
    • Cytogenetics Department, 5th Floor Tower Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
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  • Paul N. Scriven,

    1. Guy's and St. Thomas' Centre for Preimplantation Genetic Diagnosis, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK
    2. Division of Genetics and Molecular Medicine, King's College London, School of Medicine at Guy's, King's College and St. Thomas' Hospitals, London, UK
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  • Caroline Mackie Ogilvie

    1. Guy's and St. Thomas' Centre for Preimplantation Genetic Diagnosis, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK
    2. Genetics Centre, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK
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  • How to Cite this Article: Bint SM, Scriven PN, Ogilvie CM. 2013. Successful PGD cycles for mosaic Robertsonian translocation carriers provide insights into the mechanism of formation of the derivative chromosomes. Am J Med Genet Part A 161A: 566–571.

Abstract

Preimplantation genetic diagnosis (PGD) has been carried out for two couples with different mosaic Robertsonian translocations. Two PGD cycles for a mosaic 13;13 homologous Robertsonian translocation carrier resulted in the birth of a healthy child in each cycle, illustrating the importance of scanning G-banded preparations from homologous Robertsonian carriers for the presence of a normal cell line. One couple was referred for PGD because the male partner carried a mosaic 14;15 Robertsonian translocation with a normal cell line. A single PGD cycle resulted in the birth of a healthy child. Follow-up studies and extended FISH analysis of the carrier's lymphocytes detected three cell lines, two carrying different 14;15 Robertsonian chromosomes and one normal cell line. The two 14;15 Robertsonian chromosomes had different breakpoints in the proximal short arm regions. We suggest that the presence of the D15Z1 polymorphism on the short arm of one chromosome 14 mediated the post-zygotic formation of the two different Robertsonian chromosomes. © 2013 Wiley Periodicals, Inc.

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