PMID- 8788191
OWN - NLM
STAT- MEDLINE
DCOM- 19961022
LR  - 20190512
IS  - 0006-3363 (Print)
IS  - 0006-3363 (Linking)
VI  - 54
IP  - 2
DP  - 1996 Feb
TI  - Multicolor fluorescence in situ hybridization analysis of aneuploidy and diploidy 
      frequencies in 225,846 sperm from 10 normal men.
PG  - 394-8
AB  - Aneuploidy and diploidy frequencies for chromosomes 1, 12, X, and Y were assessed 
      in 225,846 sperm from 10 normal men. Results from 5 of the men have previously 
      been reported. Multicolor fluorescence in situ hybridization (FISH) was used to 
      control for lack of probe hybridization and to distinguish diploidy from disomy. 
      A minimum of 10,000 sperm per donor were evaluated for each chromosome. Sperm 
      were considered disomic if two fluorescent signals were separated by a distance 
      of a minimum of one signal domain. The mean frequencies of disomic sperm for 
      chromosomes 1 and 12 were 0.11% (range 0.05-0.18%) and 0.16% (range 0.10-0.25%), 
      respectively. The means for the sex chromosomal aneuploidies were 0.07% XX, 0.18% 
      YY, and 0.16% XY, totaling 0.42% for all sex chromosomes (range 0.23-0.71%). The 
      incidence of disomic sperm for the sex chromosomes was significantly increased 
      compared to the frequency for the autosomes, corroborating results obtained from 
      studies of sperm karyotypes and spontaneous abortions. The mean frequencies of 
      single X- and Y-bearing sperm were 50.1% and 49.0%, respectively--not 
      significantly different from 50%. The mean frequency of diploid sperm was 0.16% 
      (0.06-0.42%). Interdonor heterogeneity was found to exist for disomy 1, XX, YY, 
      and diploidy, suggesting significant variation among normal men. Comparison of 
      these FISH results to our historical sperm karyotypes demonstrated that the sex 
      ratios and disomy frequencies for chromosomes 1 and X were similar. However, 
      there was a significantly increased frequency of disomic sperm for chromosomes 
      12, YY, and XY in FISH data compared with sperm karyotypes. In general, FISH data 
      agreed quite well with values from sperm karyotyping, including the increased 
      frequency of sex chromosomal aneuploidy compared with autosomal aneuploidy in 
      sperm. Multicolor FISH analysis permits an accurate distinction between disomic 
      and diploid sperm and allows analysis of large sample sizes. This powerful 
      technology may be useful for future studies of potential environmental and 
      occupational mutagens.
FAU - Martin, R H
AU  - Martin RH
AD  - Department of Medical Genetics, University of Calgary, Alberta, Canada. 
      renee@ach.ucalgary.ca
FAU - Spriggs, E
AU  - Spriggs E
FAU - Rademaker, A W
AU  - Rademaker AW
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Biol Reprod
JT  - Biology of reproduction
JID - 0207224
RN  - 0 (DNA Probes)
SB  - IM
MH  - Adult
MH  - *Aneuploidy
MH  - Chromosomes, Human, Pair 1
MH  - Chromosomes, Human, Pair 12
MH  - DNA Probes
MH  - *Diploidy
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - Spermatozoa/*ultrastructure
MH  - X Chromosome
MH  - Y Chromosome
EDAT- 1996/02/01 00:00
MHDA- 1996/02/01 00:01
CRDT- 1996/02/01 00:00
PHST- 1996/02/01 00:00 [pubmed]
PHST- 1996/02/01 00:01 [medline]
PHST- 1996/02/01 00:00 [entrez]
AID - 10.1095/biolreprod54.2.394 [doi]
PST - ppublish
SO  - Biol Reprod. 1996 Feb;54(2):394-8. doi: 10.1095/biolreprod54.2.394.