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)

P. Y. Lu, D. G. Hammitt, A. R. Zinsmeister, G. W. Dewald

Research output: Contribution to journalArticle

40 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)394-399
Number of pages6
JournalFertility and sterility
Volume62
Issue number2
DOIs
StatePublished - Jan 1 1994

Keywords

  • Human sperm
  • chromosome 12
  • chromosome 18
  • chromosome 4
  • chromosome 7
  • chromosome 8
  • fluorescence in situ hybridization
  • sex chromosomes
  • sperm disomy
  • sperm nondisjunction
  • sperm nullisomy

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

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