BACKGROUND: Sperm donors represent an appropriate population for evaluating the frequency of chromosomal abnormalities in phenotypically normal and fertile adult males. METHODS: A large multicentric retrospective study was made within the French CECOS (Centre d'Etude et de Conservation des ufs et du Sperme) for collecting cytogenetic, biological and familial data in sperm donors over a 25-year period. RESULTS: As a whole, 10,202 karyotypes have been recorded. Thirty-eight karyotype aberrations (0.37%) have been diagnosed including 21 balanced chromosomal rearrangements (0.2%). These results are in agreement with those obtained in most large-scale studies performed in unselected newborns. Semen parameters were known for all men carrying an abnormal karyotype and showed normal sperm counts, suggesting that these types of chromosomal aberrations have no or poor consequences on spermatogenesis. Available familial data did not reveal any particular history of malformations, mental retardation or fetal losses. CONCLUSION: This study is the first large-scale cytogenetic study made in normal and fertile males and shows that the frequency of chromosomal aberrations is not influenced by a previous normal fertility or by an uneventful familial history when compared to that found at birth.
BACKGROUND: Sperm donors represent an appropriate population for evaluating the frequency of chromosomal abnormalities in phenotypically normal and fertile adult males. METHODS: A large multicentric retrospective study was made within the French CECOS (Centre d'Etude et de Conservation des ufs et du Sperme) for collecting cytogenetic, biological and familial data in sperm donors over a 25-year period. RESULTS: As a whole, 10,202 karyotypes have been recorded. Thirty-eight karyotype aberrations (0.37%) have been diagnosed including 21 balanced chromosomal rearrangements (0.2%). These results are in agreement with those obtained in most large-scale studies performed in unselected newborns. Semen parameters were known for all men carrying an abnormal karyotype and showed normal sperm counts, suggesting that these types of chromosomal aberrations have no or poor consequences on spermatogenesis. Available familial data did not reveal any particular history of malformations, mental retardation or fetal losses. CONCLUSION: This study is the first large-scale cytogenetic study made in normal and fertile males and shows that the frequency of chromosomal aberrations is not influenced by a previous normal fertility or by an uneventful familial history when compared to that found at birth.
Authors: Alexander N Yatsenko; Svetlana A Yatsenko; John W Weedin; Amy E Lawrence; Ankita Patel; Sandra Peacock; Martin M Matzuk; Dolores J Lamb; Sau Wai Cheung; Larry I Lipshultz Journal: J Urol Date: 2010-02-20 Impact factor: 7.450
Authors: Judith L Ross; Luke Bloy; Timothy P L Roberts; Judith Miller; Chao Xing; Lawrence A Silverman; Andrew R Zinn Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2019-06-03 Impact factor: 3.568
Authors: Ruth Mikelsaar; Mari Nelis; Ants Kurg; Olga Zilina; Paul Korrovits; Ranno Rätsep; Maie Väli Journal: J Appl Genet Date: 2011-11-29 Impact factor: 3.240
Authors: Michael E Talkowski; Jill A Rosenfeld; Ian Blumenthal; Vamsee Pillalamarri; Colby Chiang; Adrian Heilbut; Carl Ernst; Carrie Hanscom; Elizabeth Rossin; Amelia M Lindgren; Shahrin Pereira; Douglas Ruderfer; Andrew Kirby; Stephan Ripke; David J Harris; Ji-Hyun Lee; Kyungsoo Ha; Hyung-Goo Kim; Benjamin D Solomon; Andrea L Gropman; Diane Lucente; Katherine Sims; Toshiro K Ohsumi; Mark L Borowsky; Stephanie Loranger; Bradley Quade; Kasper Lage; Judith Miles; Bai-Lin Wu; Yiping Shen; Benjamin Neale; Lisa G Shaffer; Mark J Daly; Cynthia C Morton; James F Gusella Journal: Cell Date: 2012-04-19 Impact factor: 41.582