Chromosome 16 Abnormalities in Embryos and in Sperm from a Male with a Fragile Site at 16q22.1

• Published in: Cytogenetic and genome research Vol. 142; no. 2; pp. 134 - 139
• Main Authors: Martorell, M.R., Martínez-Pasarell, O., Lopez, O., Polo, A., Sandalinas, M., Garcia-Guixé, E., Bassas, L.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.01.2014
• Subjects: Adult; Case Report; Chromosome Fragile Sites - genetics; Chromosome Mapping; Chromosomes, Human, Pair 16 - genetics; Embryo, Mammalian - abnormalities; Female; Humans; Lymphocytes; Male; Polycystic Ovary Syndrome - genetics; Pregnancy; Spermatozoa - abnormalities; Translocation, Genetic; FISH; Structural chromosome abnormalities; PGD; Sperm; Fragile sites; Reciprocal translocation
• ISSN: 1424-8581; 1424-859X
• DOI: 10.1159/000357411

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.