Summary
The location of the Y chromosome in metaphase spreads is studied in groups of (a) 96 normal males, (b) 17 Down's syndrome patients, and (c) 51 patients with Klinefelter's syndrome. The position of the Y is scored as either peripheral or nonperipheral using several of the traditional definitions found in the literature. It is shown that contradictory results may be obtained depending on the particular definition employed and that none of the available definitions capture the essence of the meaning of ‘peripheral’. Therefore a new, standardized definition is introduced—one that applies to both circular and noncircular spreads. Using this new definition, we find definite intergroup variability. The Y is peripheral in normal males, but not in either the Down's or Klinefelter's samples.
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Back, E., Zang, K. D.: Quantitative studies on the arrangement of human metaphase chromosomes. II. Influence of the preparation technique on the association pattern of the acrocentric chromosomes. Cytogenetics 8, 304–314 (1969)
Barton, D. E., David, F. N., Merrington, M.: The relative position of the chromosomes in the human cell in mitosis. Ann. Hum. Genet. 29, 139–146 (1965)
Cohen, M. M., Shaw, M. W., MacCluer, J. W.: Racial differences in the length of the human Y chromosome. Cytogenetics 5, 34–52 (1966)
Comings, D. E.: The rationale for an ordered arrangement of chromatin in the interphase nucleus. Am. J. Hum. Genet. 20, 440–460 (1968)
Cooke, P.: Non-random participation of chromosomes 13, 14, and 15 in acrocentric associations. Humangenetik 13, 309–314 (1971)
Gripenberg, U.: Size variation and orientation of the human Y chromosome. Chromosoma 15, 618–629 (1964)
Harris, J. E., Nasjleti, C. E., Kowalski, C. J.: Discrimination between groups of chromosomes and individual chromosomes in the normal karyotype. Chromosoma (Berl.) 40, 269–284 (1973)
Kowalski, C. J.: The performance of some rough tests for bivariate normality before and after coordinate transformations to normality. Technometrics 12, 517–544 (1970)
Kowalski, C. J.: Relationship between smoking and calculus deposition. J. Dent. Res. 50, 101–104 (1971)
Kowalski, C. J., Nasjleti, C. E., Harris, J. E.: Human chromosomes. Evidence for autosomal sexual dimorphism. Exp. Cell Res. 100, 56–62 (1976)
Miller, O. J., Mukherjee, B. B., Breg, W. R., van Gamble, A.: Non-random distribution of chromosomes in metaphase figures from cultured human leukocytes. I. The peripheral location of the Y chromosome. Cytogenetics 2, 1–14 (1963a)
Miller, O. J., Breg, W. R., Mukherjee, B. D., van Gamble, A., Christakos, A. C.: Non-random distribution of chromosomes in metaphase figures from cultured human leukocytes. II. The peripheral location of chromosomes 13, 17–18 and 21. Cytogenetics 2, 152–168 (1963b)
Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. D., Hungerford, D. M.: Chromosome preparation of leukocytes cultured from human peripheral blood. Exp. Cell Res. 20, 613–616 (1960)
Nasjleti, C. E., Walden, J. M., Spencer, H. H.: Polyploidization and aberration of human chromosomes induced in vitro and in vivo with ionizing radiations. J. Nucl. Med. 7, 159–176 (1966)
Ockey, C. H.: The positions of chromosomes at metaphase in human fibroblasts and their DNA synthesis behavior. Chromosoma (Berl.) 27, 308–320 (1969)
Seabright, M.: A rapid banding technique for human chromosomes. Lancet 1971 II, 971–972
Spence, M. A., Francke, U., Forsythe, A. B.: Evidence against the peripheral location of the Y chromosome in human metaphase cells. Cytogenet. Cell Genet. 12, 49–52 (1973)
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Supported, in part, by the Medical Research Service of the Veterans Administration
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Kowalski, C.J., Nasjleti, C.E. & Schmitt, B. On the peripheral location of the Y chromosome. Hum Genet 44, 123–135 (1978). https://doi.org/10.1007/BF00295405
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DOI: https://doi.org/10.1007/BF00295405