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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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
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
Bourrouillou G, Colombies P, Dastugue N (1986) Chromosome studies in 2136 couples with spontaneous abortions. Hum Genet 74:399–401
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
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
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
Davis JR, Hagaman RM (1987) Fragile sites are unrelated to reciprocal translocation breakpoints. Clin Genet 31:308–310
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
Fryns JP, Kleczkowska A, Van den Berghe H (1986) Paracentric inversions in man. Hum Genet 73:205–213
Groupe de Cytogénéticiens Français (1986a) Pericentric inversions in man. A French collaborative study. Ann Génét (Paris) 29:129–168
Groupe de Cytogénéticiens Français (1986b) Paracentric inversions in man. A French collaborative study. Ann Génét (Paris) 29:169–176
Hecht F, Hecht BK (1984a) Fragile sites and chromosome breakpoints in constitutional rearrangements. I. Amniocentesis. Clin Genet 26:169–173
Hecht F, Hecht BK (1984b) Fragile sites and chromosome breakpoints in constitutional rearrangements. II. Spontaneous abortions, stillbirths and newborns. Clin Genet 26:174–177
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
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
Kaiser P (1984) Pericentric inversions. Problems and significance for clinical genetics. Hum Genet 68:1–47
Le Beau MM (1988) Chromosomal fragile sites and cancer-specific breakpoints. A moderating viewpoint. Cancer Genet Cytogenet 31:55–61
Madan K (1983) Balanced structural changes involving the human X: effect on sexual phenotype. Hum Genet 63:216–221
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
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
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
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
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
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
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
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
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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