Chromosomal differences in susceptibility to meiotic aneuploidy.
A basic question concerning the origins of germ cell aneuploidy is whether the same mechanisms operate for all chromosomes, or whether there are chromosome-specific factors influencing the susceptibility to nondisjunction. Although selective loss of some trisomies in early gestation may contribute to the observed differences in trisomy frequency, data from spontaneous abortions, early embryos and gametes strongly suggest that there are real differences in the frequency with which different trisomies arise. In particular the preponderance of trisomy 16 and acrocentric trisomy appears to be present at conception. Maternal and paternal age relationships also differ among trisomies, as do the extent of maternal and paternal contributions, and the relative frequency of meiosis I and meiosis II errors. Recombination patterns associated with nondisjunction also show chromosomal differences. Chromosomal differences in length, centromere position, pericentromeric and other repetitive sequences, recombination patterns and chromatin characteristics might all be related to a differential susceptibility to aneuploidy, but no current explanation accounts for the excess of maternally derived trisomy 16. The existence of chromosome-specific factors makes extrapolation from observations on one chromosome to all aneuploidy unwise, both for investigations into the causes of aneuploidy, and for surveillance of aneuploidy frequency.
Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
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Warburton
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Kinney
D000022:Abortion, Spontaneous / Q000453:epidemiology / Q000235:genetics; D000328:Adult; D000782:Aneuploidy; D000818:Animals; D001755:Blastocyst; D002503:Centromere; D002843:Chromatin / Q000502:physiology; D002869:Chromosome Aberrations / Q000453:epidemiology; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002877:Chromosomes, Human; D005260:Female; D005854:Germ Cells / Q000502:physiology; D006801:Humans; D007231:Infant, Newborn; D008423:Maternal Age; D008540:Meiosis; D010290:Parents; D011247:Pregnancy; D011995:Recombination, Genetic; D014314:Trisomy / Q000235:genetics*
D002843:Chromatin