PMID- 15117895 OWN - NLM STAT- MEDLINE DCOM- 20041221 LR - 20071114 IS - 0268-1161 (Print) IS - 0268-1161 (Linking) VI - 19 IP - 6 DP - 2004 Jun TI - Detection of structural and numerical chromosomal abnormalities by ACM-FISH analysis in sperm of oligozoospermic infertility patients. PG - 1395-400 AB - BACKGROUND: Modern reproductive technologies are enabling the treatment of infertile men with severe disturbances of spermatogenesis. The possibility of elevated frequencies of genetically and chromosomally defective sperm has become an issue of concern with the increased usage of ICSI, which can enable men with severely impaired sperm production to father children. Several papers have been published reporting aneuploidy in oligozoospermic patients, but relatively little is known about chromosome structural aberrations in the sperm of these patients. METHODS: We examined sperm from infertile, oligozoospermic individuals for structural and numerical chromosomal abnormalities using a multicolour ACM fluorescence in situ hybridization (FISH) assay that utilizes DNA probes specific for three regions of chromosome 1 to detect human sperm that carry numerical chromosomal abnormalities plus two categories of structural aberrations: duplications and deletions of 1pter and 1cen, and chromosomal breaks within the 1cen-1q12 region. RESULTS: There was a significant increase in the average frequencies of sperm with duplications and deletions in the infertility patients compared with the healthy concurrent controls. There was also a significantly elevated level of breaks within the 1cen-1q12 region. There was no evidence for an increase in chromosome 1 disomy, or in diploidy. CONCLUSIONS: Our data reveal that oligozoospermia is associated with chromosomal structural abnormalities, suggesting that oligozoospermic men carry a higher burden of transmissible, chromosome damage. The findings raise the possibility of elevated levels of transmissible chromosomal defects following ICSI treatment. FAU - Schmid, T E AU - Schmid TE AD - Department of Biomedical Sciences, University of Bradford, UK. FAU - Brinkworth, M H AU - Brinkworth MH FAU - Hill, F AU - Hill F FAU - Sloter, E AU - Sloter E FAU - Kamischke, A AU - Kamischke A FAU - Marchetti, F AU - Marchetti F FAU - Nieschlag, E AU - Nieschlag E FAU - Wyrobek, A J AU - Wyrobek AJ LA - eng GR - P4ZES04705/ES/NIEHS NIH HHS/United States PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, Non-P.H.S. PT - Research Support, U.S. Gov't, P.H.S. DEP - 20040429 PL - England TA - Hum Reprod JT - Human reproduction (Oxford, England) JID - 8701199 SB - IM MH - Adult MH - *Chromosome Aberrations MH - Color MH - Gene Deletion MH - Genes, Duplicate MH - Humans MH - *In Situ Hybridization, Fluorescence/methods MH - Infertility, Male/*genetics/pathology/physiopathology MH - Male MH - Oligospermia/*genetics/pathology/physiopathology MH - Sperm Count MH - Sperm Motility MH - Spermatozoa/*ultrastructure EDAT- 2004/05/01 05:00 MHDA- 2004/12/22 09:00 CRDT- 2004/05/01 05:00 PHST- 2004/05/01 05:00 [pubmed] PHST- 2004/12/22 09:00 [medline] PHST- 2004/05/01 05:00 [entrez] AID - deh278 [pii] AID - 10.1093/humrep/deh278 [doi] PST - ppublish SO - Hum Reprod. 2004 Jun;19(6):1395-400. doi: 10.1093/humrep/deh278. Epub 2004 Apr 29.