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Fragile sites and breakpoints in constitutional rearrangements and in human sperm chromosomes

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Recently, it has been suggested that an association exists between breakpoints involved in constitutional rearrangements and fragile sites; however, statistical analyses of this relationship are controversial. We have analyzed 1200 breakpoint from different constitutional rearrangements, 1522 breakpoints with respect to their recurrence and 217 breakpoints from sperm chromosomes as reported by several authors. The coincidence between breakpoints and fragile sites was 35.3%, 43.6% and 41.9% respectively. The statistical significance of these coincidences depends on whether factors such as the relative length of the bands or the recurrence of the rearrangements are taken into account.

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Correspondence to C. Fuster.

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Fuster, C., Miró, R., Templado, C. et al. Fragile sites and breakpoints in constitutional rearrangements and in human sperm chromosomes. Hum Genet 82, 330–334 (1989). https://doi.org/10.1007/BF00273992

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  • Internal Medicine
  • Metabolic Disease
  • Relative Length
  • Human Sperm
  • Fragile Site