PMID- 11992257
OWN - NLM
STAT- MEDLINE
DCOM- 20020627
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 70
IP  - 6
DP  - 2002 Jun
TI  - Stable variants of sperm aneuploidy among healthy men show associations between 
      germinal and somatic aneuploidy.
PG  - 1507-19
AB  - Repeated semen specimens from healthy men were analyzed by sperm fluorescence in 
      situ hybridization (FISH), to identify men who consistently produced elevated 
      frequencies of aneuploid sperm and to determine whether men who were identified 
      as stable variants of sperm aneuploidy also exhibited higher frequencies of 
      aneuploidy in their peripheral blood lymphocytes. Seven semen specimens were 
      provided by each of 15 men over a 2-year period and were evaluated by the X-Y-8 
      multicolor sperm FISH method (i.e., approximately 1,050,000 sperm were analyzed 
      from 105 specimens). Three men were identified as stable aneuploidy variants 
      producing significantly higher frequencies of XY, disomy X, disomy Y, disomy 8, 
      and/or diploid sperm over time. In addition, one man and three men were 
      identified as sperm-morphology and sperm-motility variants, respectively. Strong 
      correlations were found between the frequencies of sperm with autosomal and 
      sex-chromosome aneuploidies and between the two types of meiosis II diploidy; but 
      not between sperm aneuploidy and semen quality. A significant association was 
      found between the frequencies of sex-chromosome aneuploidies in sperm and 
      lymphocytes in a subset of 10 men (r2=0.67, P=.004), especially between XY sperm 
      and sex-chromosome aneuploidy in lymphocytes (r2=0.70, P=.003). These findings 
      suggest that certain apparently healthy men can produce significantly higher 
      frequencies of both aneuploid sperm and lymphocytes. Serious long-term somatic 
      and reproductive health consequences may include increased risks of 
      aneuploidy-related somatic diseases and of having children with paternally 
      transmitted aneuploidies, such as Klinefelter, Turner, triple-X, and XYY 
      syndromes.
FAU - Rubes, Jiri
AU  - Rubes J
AD  - Veterinary Research Institute, Hudcova 70, 621 32 Brno, Czech Republic. 
      rubes@vri.cz
FAU - Vozdova, Miluse
AU  - Vozdova M
FAU - Robbins, Wendie A
AU  - Robbins WA
FAU - Rezacova, Olga
AU  - Rezacova O
FAU - Perreault, Sally D
AU  - Perreault SD
FAU - Wyrobek, Andrew J
AU  - Wyrobek AJ
LA  - eng
GR  - P42 ES004705/ES/NIEHS NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20020430
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
SB  - IM
MH  - Adult
MH  - *Aneuploidy
MH  - Cell Size
MH  - Chromosomes, Human, Pair 8/genetics
MH  - Diploidy
MH  - Genetic Variation/*genetics
MH  - Health
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Lymphocytes/*cytology/*metabolism/pathology
MH  - Male
MH  - Sex Chromosomes/genetics
MH  - Sperm Count
MH  - Sperm Motility/genetics
MH  - Spermatozoa/*cytology/*metabolism/pathology
PMC - PMC379139
EDAT- 2002/05/07 10:00
MHDA- 2002/06/28 10:01
PMCR- 2002/12/01
CRDT- 2002/05/07 10:00
PHST- 2001/12/11 00:00 [received]
PHST- 2002/03/19 00:00 [accepted]
PHST- 2002/05/07 10:00 [pubmed]
PHST- 2002/06/28 10:01 [medline]
PHST- 2002/05/07 10:00 [entrez]
PHST- 2002/12/01 00:00 [pmc-release]
AID - S0002-9297(07)60703-4 [pii]
AID - 013621 [pii]
AID - 10.1086/340791 [doi]
PST - ppublish
SO  - Am J Hum Genet. 2002 Jun;70(6):1507-19. doi: 10.1086/340791. Epub 2002 Apr 30.