Human Genetics

, Volume 73, Issue 1, pp 27–30 | Cite as

The frequency of false-positive and false-negative results in the detection of Y-chromosomes in interphase nuclei

  • J. L. Thomsen
  • E. Niebuhr
Original Investigations


In blood smears from 527 females and 457 males examined for the presence of Y chromosomes in interphase nuclei, 0.6% false-positive results and 11% false-negative results were found. There was a clear tendency for the falsenegative results to occur among those with small fluorescent or non-existing bands on the Y chromosome. The three falsepositive females all had fluorescent chromosomal variants. In a comparison between female samples with and without chromosomal variants respectively, the former showed significantly higher false Y-body counts. There was a decrease in the number of Y-bodies with increasing age. There were no significant differences between staining with 0.1% Quinacrine mustard and 0.1% and 1% Mepacrine. This study provides a] more solid basis for the use of Y chromosome detection in forensic medicine, for screening purposes etc.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Hansen HE, Niebuhr E, Lomas C (1984) Chimeric twins, T.S. and M.R. reexamined. Hum Hered 34:127–130Google Scholar
  2. Kringsholm B, Thomsen JL, Henningsen K (1977) Fluorescent Y-chromosomes in hairs and blood stains. Forensic Sci 9:117–126Google Scholar
  3. Lamborot-Manzur M, Tischler PV, Atkins L (1972) Quantitative studies of Y-chromosomal fluorescence in human interphase nuclei. Clin Genet 3:103–115Google Scholar
  4. Paláková H, Ferák V, Gencik A (1976) Y-Chromatin frequency in aged men. Z Altersforsch 31:541–545Google Scholar
  5. Pearson PL, Bobrow M, Vosa CG (1970) Technique for identifying Y-chromosomes in human interphase nuclei. Nature 226:78–80Google Scholar
  6. Pierre RV, Hoagland HC (1972) Age-associated aneuploidy: loss of Y-chromosome from human bone marrow cells with aging. Cancer 30:889–894Google Scholar
  7. Thomsen JL (1975) Eine verbesserte Methode zum Nachweis des Y-Chromosoms in Blutspuren. Z Rechtsmed 76:81–86Google Scholar
  8. Thomsen JL (1979) Y-Chromosome bodies in brain and kidney: the normal variation and an unexpected finding in sudden infant death syndrome. Med Sci Law 19:104–107Google Scholar
  9. Zech L (1969) INvestigation of metaphase chromosomes with DNA-binding fluorochromes. Exp Cell Res 58:463Google Scholar

Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • J. L. Thomsen
    • 1
  • E. Niebuhr
    • 1
  1. 1.University Institute of Forensic Medicine and Medical GeneticsCopenhagenDenmark

Personalised recommendations