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. DESIGN: 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). SETTING: 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. CONCLUSION: 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.
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. DESIGN: 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). SETTING: 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. CONCLUSION: 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.