Summary
Nineteen patients with de novo chromosome rearrangements and their parents were studied for parental origin using fluorescent heteromorphisms as heritable markers. Conclusions were possible in all 19. Eighteen of these rearrangements involved at least one acrocentric chromosome, and one involved a chromosome number three. A strong bias toward paternal meiotic errors was evident with those rearrangements which were not Robertsonian in type or which did not involve segregation errors. Of nine such cases eight were paternal in origin. Of the remaining ten rearrangements nine were Robertsonian translocations; four of the nine were paternal in origin. The supernumerary bisatellited 15, which was the result of a non-disjunctive event, was maternal in origin.
Parental origin has been established for 42 cases of de novo chromosome rearrangements; these include our 19 cases and 23 from the literature. There were 20 Robertsonian translocations; of these, 13 were of maternal origin, and seven were of paternal origin. Six rearrangements that involved non-disjunction or segregation errors were of maternal origin: five cases with a supernumerary bisatellited 15 and one with an extra dicentric nine. The 17 remaining de novo rearrangements were predominantly due to paternal errors; only four were of maternal origin while 13 were of paternal origin.
With the exception of the parents of patients with supernumerary bisatellited 15's, the parental ages were not noticeably elevated.
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Chamberlin, J., Magenis, R.E. Parental origin of de novo chromosome rearrangements. Hum Genet 53, 343–347 (1980). https://doi.org/10.1007/BF00287054
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DOI: https://doi.org/10.1007/BF00287054