title: Chromosome 16 abnormalities in embryos and in sperm from a male with a fragile site at 16q22.1.
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.
authors.affiliation: Unitat de Reproducció Humana i Diagnòstic Genètic, Clínica Girona, Girona, Spain.
authors.forename: M R
authors.initials: MR
authors.lastname: Martorell
authors.forename: O
authors.initials: O
authors.lastname: Martínez-Pasarell
authors.forename: O
authors.initials: O
authors.lastname: Lopez
authors.forename: A
authors.initials: A
authors.lastname: Polo
authors.forename: M
authors.initials: M
authors.lastname: Sandalinas
authors.forename: E
authors.initials: E
authors.lastname: Garcia-Guixé
authors.forename: L
authors.initials: L
authors.lastname: Bassas
mesh_terms: D000328:Adult; D043283:Chromosome Fragile Sites / Q000235:genetics*; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D004622:Embryo, Mammalian / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008214:Lymphocytes; D008297:Male; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D011247:Pregnancy; D013094:Spermatozoa / Q000002:abnormalities*; D014178:Translocation, Genetic