Dual color fluorescence in situ hybridization to investigate aneuploidy in sperm from 33 normal males and a man with a t(2;4;8)(q23;q27;p21)
OBJECTIVE
To establish the relative frequency of aneuploidy in sperm from normal and abnormal subjects using dual color fluorescence in situ hybridization and probes for six different chromosomes.


METHODS
Semen from 33 normal males and a patient with a translocation was studied using dual color fluorescence in situ hybridization with probes for chromosomes 4, 7, 8, 12, 18, X and Y. The frequency of aneuploidy for each chromosome is compared with one another and with the patient who had a t(2;4;8)(q23;q27;p21).


METHODS
Specimens were obtained from patients at the Mayo Clinic, Rochester, Minnesota.


RESULTS
The percentage of sperm with disomy or nullisomy in normal subjects ranged from 0.2% to 0.6% for each of the chromosomes studied. No statistically significant differences were observed between these chromosomes. The frequency of aneuploidy in sperm from a patient with a t(2;4;8) was 3.3% and 4.8% for chromosomes 4 and 8, respectively.


CONCLUSIONS
Fluorescence in situ hybridization was useful to establish the normal range of nullisomic and disomic sperm for six different chromosomes and to study a patient with a clinically significant chromosome abnormality. In normal males, no difference in the frequency of meiotic nondisjunction was observed among the chromosomes studied.
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Division of Reproductive Endocrinology, Mayo Clinic, Rochester, Minnesota 55905.
Hammitt
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Zinsmeister
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Dewald
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GW
D000328:Adult; D000782:Aneuploidy; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009845:Oligospermia / Q000235:genetics; D012016:Reference Values; D013094:Spermatozoa / Q000502:physiology*; D014178:Translocation, Genetic / Q000235:genetics*