Journal of Assisted Reproduction and Genetics

, Volume 32, Issue 1, pp 111–116 | Cite as

Possible influence of menstrual cycle on lymphocyte X chromosome mosaicism

  • K. Gersak
  • M. Perme-Pohar
  • A. Veble
  • B. M. Gersak



Estrogens are known to selectively influence cell proliferation. Physiological variations of blood hormone concentration might play a role in regulating the level of X chromosome aneuploidy. In this study we observed the percentages of X aneuploid cells in standard lymphocyte cultures from blood samples obtained in relation to the menstrual cycle, noting whether collection occurred during either the follicular or the luteal phase.


A study consisting of 28 women with X mosaicism and recurrent pregnancy loss, and 28 age-matched healthy controls. Cytogenetic studies were carried out on peripheral blood samples according to standard procedures.


A significant difference in the percentage of X aneuploidy was found in blood samples obtained during different phases of the menstrual cycle. In the case group, the mean value of aneuploid cells in the follicular and luteal phase samples was 10.0 and 6.3 % respectively and in the control group, it was 2.8 and 1.0 % (P < 0.0001). The difference in the case group varied between 0 and 8 % (3.6 ± 2.1 %) and in the control group between 0 and 4 % (1.7 ± 1.1 %). The specificity for detecting true X mosaicism was 0.875. We estimate that the initial diagnosis of X mosaicism could be correct in 68 % of patients with recurrent pregnancy loss.


This observational study establishes that the time of blood sampling in relation to the menstrual cycle can influence lymphocyte X chromosome mosaicism. The results, further proven by additional controlled studies, would have practical implications for genetic counselling and fertility treatment.


X chromosome mosaicism X aneuploidy Menstrual cycle Sampling 



The authors would like to thank the laboratory and clinical staff of the Institute of Medical Genetics (University Medical Center Ljubljana, Slovenia) for their excellent technical assistance. The study was supported by a grant from the Ministry of Higher Education, Science and Technology of the Republic of Slovenia (No. P3―0124).

Conflict of interest

The authors declare no conflict of interest.

Supplementary material

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • K. Gersak
    • 1
  • M. Perme-Pohar
    • 2
  • A. Veble
    • 3
  • B. M. Gersak
    • 4
  1. 1.Department of Obstetrics and GynaecologyUniversity Medical Centre Ljubljana and Faculty of Medicine University of LjubljanaLjubljanaSlovenia
  2. 2.Institute for Biostatistics and Medical Informatics, Faculty of MedicineUniversity of LjubljanaLjubljanaSlovenia
  3. 3.Institute of Medical Genetics, Department of Obstetrics and GynaecologyUniversity Medical Centre LjubljanaLjubljanaSlovenia
  4. 4.Faculty of MedicineUniversity of LjubljanaLjubljanaSlovenia

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