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Updated: May 3, 2026

Fluorescence in situ hybridization FISH Protocol in Human Sperm
Published on: September 1, 2009
Chromosome 16 abnormalities in embryos and in sperm from a male with a fragile site at 16q22.1
M R Martorell1, O Martínez-Pasarell, O Lopez
1Unitat de Reproducció Humana i Diagnòstic Genètic, Clínica Girona, Girona, Spain.
Abstract:
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.
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