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

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Summary

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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References

  • Antoine JL, Aurias A, Dutrillaux B (1982) Position non aléatoire des chromosomes métaphasiques. III. Position des chromosomes dans les translocations constitutionelles. Ann Génét (Paris) 25:226–228

    Google Scholar 

  • Benet J, Fuster C, Genescà A, Navarro J, Miró R, Egozcue J, Templado C (1989) Expression of fragile sites in human sperm and lymphocyte chromosomes. Hum Genet 81:239–242

    Google Scholar 

  • Bourrouillou G, Colombies P, Dastugue N (1986) Chromosome studies in 2136 couples with spontaneous abortions. Hum Genet 74:399–401

    Google Scholar 

  • Brandriff B, Gordon L, Ashworth L, Watchmaker G, Carrano A, Wyrokeb A (1984) Chromosomal abnormalities in human sperm: comparisons among four healthy men. Hum Genet 66:193–201

    Google Scholar 

  • Brandriff B, Gordon L, Ashworth L, Watchmaker G, Moore D, Wyrobek A, Carrano A (1985) Chromosomes of human sperm: variability among normal individuals. Hum Genet 70:18–24

    Google Scholar 

  • Campana M, Serra A, Neri G (1986) Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations. Am J Med Genet 24:341–356

    Google Scholar 

  • Davis JR, Hagaman RM (1987) Fragile sites are unrelated to reciprocal translocation breakpoints. Clin Genet 31:308–310

    Google Scholar 

  • Fraccaro M, Lindsten J, Ford CE, Iselius L (1980) The 11q; 22q. translocation: a European collaborative analysis of 43 cases. Hum Genet 56:21–51

    Google Scholar 

  • Fryns JP, Kleczkowska A, Van den Berghe H (1986) Paracentric inversions in man. Hum Genet 73:205–213

    Google Scholar 

  • Groupe de Cytogénéticiens Français (1986a) Pericentric inversions in man. A French collaborative study. Ann Génét (Paris) 29:129–168

    Google Scholar 

  • Groupe de Cytogénéticiens Français (1986b) Paracentric inversions in man. A French collaborative study. Ann Génét (Paris) 29:169–176

    Google Scholar 

  • Hecht F, Hecht BK (1984a) Fragile sites and chromosome breakpoints in constitutional rearrangements. I. Amniocentesis. Clin Genet 26:169–173

    Google Scholar 

  • Hecht F, Hecht BK (1984b) Fragile sites and chromosome breakpoints in constitutional rearrangements. II. Spontaneous abortions, stillbirths and newborns. Clin Genet 26:174–177

    Google Scholar 

  • Human Gene Mapping 9 (1987) 9th International Workshop on Human Gene Mapping. Cytogenet Cell Genet 46:1–762

  • ISCN (1985) An international system for human cytogenetic nomenclature. Harnden DG, Klinger HP (eds). Published in collaboration with Cytogenet Cell Genet. Karger, Basel

    Google Scholar 

  • Jalbert P, Sele B, Jalbert H (1980) Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing. A study of 151 human translocations. Hum Genet 55:209–222

    Google Scholar 

  • Kaiser P (1984) Pericentric inversions. Problems and significance for clinical genetics. Hum Genet 68:1–47

    Google Scholar 

  • Le Beau MM (1988) Chromosomal fragile sites and cancer-specific breakpoints. A moderating viewpoint. Cancer Genet Cytogenet 31:55–61

    Google Scholar 

  • Madan K (1983) Balanced structural changes involving the human X: effect on sexual phenotype. Hum Genet 63:216–221

    Google Scholar 

  • Marlhens F, Achkar WAL, Aurias A, Couturier J, Dutrillaux AM, Gerbault-Sereau M, Hoffschir F, Lamoliatte E, Lefrançois D, Lombard M, Muleris M, Prieur M, Prod'homme M, Sabatier L, Viegas-Péquignot E, Volobouev V, Dutrillaux R (1986) The rate of chromosome breakage is age-dependent in lymphocytes of adult controls. Hum Genet 73:290–297

    Google Scholar 

  • Martin RH, Balkan W, Burns K, Rademaker AW, Lin CC, Rudd NL (1983) The chromosome constitution of 1000 human spermatozoa. Hum Genet 63:305–309

    Google Scholar 

  • Martin RH, Rademaker AW, Hildebrand K, Long-Simpson L, Peterson D, Yamamoto J (1987) Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum Genet 77:108–114

    Google Scholar 

  • Neri G, Serra A, Campana M, Tedeschi B (1983) Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. Am J Med Genet 16:535–561

    Google Scholar 

  • Sutherland GR, Mattei JF (1987) Report of the committee on cytogenetic markers. (9th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 46:316–324

    Google Scholar 

  • Sutherland GR, Simmers RN (1988) No statistical association between common fragile sites and nonrandom chromosome breakpoints in cancer cells. Cancer Genet Cytogenet 31:9–15

    Google Scholar 

  • Tanaka K, Kamada N, Ohkita T, Kuramoto A (1983) Non random distribution of chromosome breaks in lymphocytes of atomic bomb survivors. J Radiat Res 24:291–304

    Google Scholar 

  • Young RS, Hansen KL, Shapiro SD, Jorgenson RJ (1984) A high frequency of structural chromosome abnormalities in a south central texas cytogenetics laboratory. Am J Med Genet 19:347–358

    Google Scholar 

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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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  • DOI: https://doi.org/10.1007/BF00273992

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