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Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man

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We report the parental origin, and where possible the chromosomal origin of 115 de novo unbalanced structural chromosome abnormalities detectable by light microscopy. These consisted of 39 terminal deletions, 35 interstitial deletions, 8 rings, 12 duplications and 21 unbalanced translocations. In all categories the majority of abnormalities were of paternal origin, although the proportions varied from a high of 84% in the interstitial deletions and rings to a low of 58% in the duplications. Among the interstitial deletions and duplications, there were approximately equal numbers of intra- and interchromosomal abnormalities, while the majority of unbalanced translocations were isodisomic for the duplicated chromosome. The examination of the parental ages in the four main classes of abnormality showed terminal deletions of maternal origin to be associated with a significantly reduced maternal age. Thus, there is a clear propensity for structural chromosome abnormalities to occur in male germ cells, although the chromosomal origin seems similar irrespective of the parental origin.

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We are indebted to all members of the diagnostic cytogenetic laboratories without whom there would have been no study population. We are extremely grateful to Barbara O’Prey for her splendid work in tracking down the patients and obtaining informed consent. We are also grateful to Paul Strike for statistical calculations. We would like to thank Judy Gladding for her help with the manuscript, and especially the Figure. This work was funded by the Wellcome Trust.

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Correspondence to Patricia Jacobs.

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Thomas, N.S., Durkie, M., Van Zyl, B. et al. Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum Genet 119, 444 (2006). https://doi.org/10.1007/s00439-006-0157-6

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  • Parental Origin
  • Structural Rearrangement
  • Maternal Origin
  • Interstitial Deletion
  • Terminal Deletion