Paternal nondisjunction in trisomy 21: Excess of male patients

Michael B. Petersen, Stylianos E. Antonarakis, Terry J. Hassold, Sallie B. Freeman, Stephanie L. Sherman, Dimitrios Avramopoulos, Margareta Mikkelsen

Research output: Contribution to journalArticle


Paternal nondisjunction accounts for approximately 5% of cases of trisomy 21. We have studied 36 cases of free trisomy 21, in which the supernumerary chromosome was of paternal origin, with DNA markers in the pericentromeric region and along the long arm of chromosome 21. Fifteen of the paternal cases were consistent with meiosis II errors, 8 with mitotic errors and only 7 with meiosis I nondisjunction. This contrasts markedly with maternally derived trisomy 21, in which meiosis I errors predominate. An excess of males was observed in the meiotic cases (21 males:6 females), highly significantly different from a 1.06 ratio. A significant difference in mean maternal age was found between cases of paternal origin (28.1 years) and those of maternal origin (31.8 years, n = 429). This indicates that the maternal age effect is confined to maternal nondisjunction.

Original languageEnglish (US)
Pages (from-to)1691-1695
Number of pages5
JournalHuman Molecular Genetics
Issue number10
Publication statusPublished - Oct 1993


ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Petersen, M. B., Antonarakis, S. E., Hassold, T. J., Freeman, S. B., Sherman, S. L., Avramopoulos, D., & Mikkelsen, M. (1993). Paternal nondisjunction in trisomy 21: Excess of male patients. Human Molecular Genetics, 2(10), 1691-1695.