PMID- 16892324 OWN - NLM STAT- MEDLINE DCOM- 20061019 LR - 20200930 IS - 1552-4825 (Print) IS - 1552-4825 (Linking) VI - 140A IP - 17 DP - 2006 Sep 1 TI - A father of four consecutive trisomic pregnancies with elevated frequencies of associated aneuploid sperm. PG - 1840-5 AB - A couple with normal somatic karyotypes had four consecutive trisomic pregnancies, each involving a different chromosome, of which two children were liveborn with confirmed paternal-origin trisomies. The apparently healthy father produced abnormally high frequencies of disomic sperm for each of the four chromosomes involved in the trisomic pregnancies (P< 0.003, by sperm fluorescence in situ hybridization (FISH)). His elevated sperm aneuploidies persisted over a 2-year period and affected all chromosomes evaluated, suggesting that he had a genome-wide defect in meiotic disjunction. He also had the highest frequencies of aneuploid sperm reported for any healthy man to date. His frequencies of aneuploid sperm were comparable to the peak frequencies of the transient responses reported in some cancer patients after receiving aneugenic chemotherapies. These findings indicate that apparently healthy men can produce abnormally high frequencies of sperm aneuploidies that suggest that this condition may contribute to recurrent trisomic pregnancies. FAU - Tomascik-Cheeseman, Lisa M AU - Tomascik-Cheeseman LM AD - Biosciences Directorate, Lawrence Livermore National Laboratory (LLNL), Livermore, California, USA. FAU - Lowe, Xiu R AU - Lowe XR FAU - Eskenazi, Brenda AU - Eskenazi B FAU - Kidd, Sharon AU - Kidd S FAU - Nath, Joginder AU - Nath J FAU - Moore, Dan 2nd AU - Moore D 2nd FAU - Wyrobek, Andrew J AU - Wyrobek AJ LA - eng GR - P42ES04705/ES/NIEHS NIH HHS/United States GR - R01 ES09117-02/ES/NIEHS NIH HHS/United States GR - Y01-ES-10203-00/ES/NIEHS NIH HHS/United States PT - Comparative Study PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, U.S. Gov't, Non-P.H.S. PL - United States TA - Am J Med Genet A JT - American journal of medical genetics. Part A JID - 101235741 SB - IM MH - Adult MH - *Aneuploidy MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Male MH - Pedigree MH - Pregnancy MH - Spermatozoa/cytology/metabolism/*ultrastructure MH - *Trisomy EDAT- 2006/08/08 09:00 MHDA- 2006/10/20 09:00 CRDT- 2006/08/08 09:00 PHST- 2006/08/08 09:00 [pubmed] PHST- 2006/10/20 09:00 [medline] PHST- 2006/08/08 09:00 [entrez] AID - 10.1002/ajmg.a.31391 [doi] PST - ppublish SO - Am J Med Genet A. 2006 Sep 1;140A(17):1840-5. doi: 10.1002/ajmg.a.31391.