Two fragile sites, FRA16B and FRA16C, are located in the chromosome band 16q22.1. Neither of them is associated with any specific clinical condition. We report the development and outcome of a clinically applied PGD cycle in a couple who had difficulty in achieving pregnancy. The woman was a carrier of a balanced reciprocal translocation, t(11;22)(q23;q11.2), and the man presented high expression of the fragile site 16q22.1 (FRA16B/C) in peripheral blood lymphocytes. Gains and losses of chromosome 16 fragments were detected in sperm and embryos. To our knowledge, this is the first documented case suggesting a link between FRA16B/C and chromosome 16 abnormalities in embryos and sperm from a carrier.

Keywords:
FISH, Fragile sites, PGD, Reciprocal translocation, Sperm, Structural chromosome abnormalities
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2014
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