Skip to main content
SpringerLink
Log in

The Human Karyotype Analysis of Chromosomes in Mitosis and Evaluation of Cytogenetic Data

  • Chapter
Methods in Human Cytogenetics

Abstract

This chapter deals with methods for analysis of human chromosomal preparations and evaluation of cytogenetic findings. It describes the human karyotype determined by standard staining procedures, the characteristics of each individual chromosome as defined by recent techniques, and the evaluation of cytogenetic data for diagnosis. In addition, the normal variants of the karyotype are described in detail. A description of the results of cytogenetic studies or specific problems related to chromosomal aberrations is beyond the scope of this chapter and the reader is referred to recent surveys, such as those by Hamerton (1971), Jacobs (1969 and 1972), Wright et al. (1972), Ford (1973), Hirschhorn (1973), Ferguson-Smith (1973), or Caspersson and Zech (1973), and the literature cited there.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Arrighi, F. E., Hsu, T. C.: Localization of heterochromatin in human chromosomes. Cytogenetics 10, 81–86 (1971).

    PubMed  CAS  Google Scholar 

  • Aula, P., Nichols, W. W.: The cytogenetic effects of mycoplasma in human leukocyte cultures. J. cell. Physiol. 70, 281–290 (1968).

    Google Scholar 

  • Aula, P., Saksela, E.: Comparison of areas of quinacrine mustard fluorescence and modified Giemsa staining in human metaphase chromosomes. Exp. Cell Res. 71, 161–167 (1972).

    PubMed  CAS  Google Scholar 

  • Barton, D. E., David, F. N., Merrington, M.: The position of the sex chromosomes in the human cell in mitosis. Ann. hum. Genet. 28, 123–128 (1964).

    PubMed  CAS  Google Scholar 

  • Bender, M. A., Kastenbaum, M. A.: Statistical analysis of the normal human karyotype. Amer. J. hum. Genet. 21, 322–351 (1969).

    PubMed  CAS  Google Scholar 

  • Bloom, A. D.: Induced chromosomal aberrations in man. In: Advances in human genetics, vol. 3, p. 99–172, H. Harris and K. Hirschhorn, eds. New York-London: Plenum Press 1972.

    Google Scholar 

  • Bobrow, M., Madan, K., Pearson, P. L.: Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9. Nature New Biol. (Lond.) 238, 122–124 (1972).

    CAS  Google Scholar 

  • Bobrow, M., Pearson, P. L., Pike, M. C., El-Alfi, O. S.: Length variation in the quinacrine-binding segment of human Y chromosomes of different sizes. Cytogenetics 10, 190–198 (1971).

    PubMed  CAS  Google Scholar 

  • Bobrow, M., Collacott, H. E. A., Madan, K.: Chromosome banding with acridine orange. Lancet 1972 II, 1311.

    Google Scholar 

  • Borgoankar, D. S., Hollander, D. H.: Quinacrine fluorescence of the human Y chromosome. Nature (Lond.) 230, 52 (1971).

    Google Scholar 

  • Borgoankar, D. S., McKusick, V. A., Herr, H. M., Cobos, de los, L., Yoder, O. C.: Constancy of the length of human Y chromosome. Ann. Génét. 12, 262–264 (1969).

    Google Scholar 

  • Breg, W. R., Allderdice, P. W., Miller, D. A., Miller, O. J.: Quinacrine fluorescence patterns and terminal DNA labelling of human C group chromosomes. Nature New Biol. (Lond.) 236, 76–78 (1972).

    CAS  Google Scholar 

  • Breg, W. R., Miller, O. J., Miller, D. A., Allerdice, P. W.: Distinctive fluorescence of quinacrine-labelled human G group chromosomes. Nature New Biol. (Lond.) 231, 276–277 (1971).

    CAS  Google Scholar 

  • Brogger, A., Johansen, J.: A model for the production of chromosome damage by mitomycin C. Chromosoma (Berl.) 38, 95–104 (1972).

    CAS  Google Scholar 

  • Brown, J. A., Palmer, C. G., Yu, P. L.: The distribution and localization of drug-induced secondary constrictions in human chromosomes. Canad. J. Genet. Cytol. 14, 81–93 (1972).

    PubMed  CAS  Google Scholar 

  • Calderon, D., Schnedl, W.: A comparison between quinacrine fluorescence banding and 3H-thymidine incorporation patterns in human chromosomes. Humangenetik 18, 63–70 (1973).

    PubMed  CAS  Google Scholar 

  • Caspersson, T., Lomakka, G., Zech, L.: The 24 fluorescence patterns of the human metaphase chromosomes—distinguishing characters and variability. Hereditas (Lund) 67, 89–102 (1971).

    Google Scholar 

  • Caspersson, T., Zech, L.: Fluorescent labeling and identification of human chromosomes. In: Perspectives in cytogenetics, p. 163–185, S.W. Wright, B. F. Crandall, L. Boyer, eds. Springfield: Charles C. Thomas 1972.

    Google Scholar 

  • Caspersson, T., Zech, L. (eds.): Chromosome identification—technique and applications in biology and medicine. Nobel Symposium 23. New York and London: Academic Press 1973.

    Google Scholar 

  • Caspersson, T., Zech, L., Johansson, C.: Differential binding of alkylating fluorochromes in human chromosomes. Exp. Cell Res. 60, 315–319 (1970a).

    PubMed  CAS  Google Scholar 

  • Caspersson, T., Zech, L., Johansson, C., Lindsten, J., Hultén, M.: Fluorescent staining of heteropycnotic chromosome regions in human interphase nuclei. Exp. Cell Res. 61, 472–474 (1970c).

    PubMed  CAS  Google Scholar 

  • Caspersson, T., Zech, L., Johansson, C., Modest, E. J.: Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma (Berl.) 30, 215–277 (1970b).

    CAS  Google Scholar 

  • Castleman, K. R., Wall, R. J.: Automatic systems for chromosome identification. In: Chromosome identification, p. 77–84, T. Caspersson and L. Zech (eds.), Nobel Symposium 23. New York and London: Academic Press 1973.

    Google Scholar 

  • Chapelle, A. de la, Schröder, J., Selander, R.-K., Stenstrand, K.: Differences in DNA composition along mammalian metaphase chromosomes. Chromosoma (Berl.) 42, 365–382 (1973).

    Google Scholar 

  • Chen, T. R., Ruddle, F. A.: Karyotype analysis utilizing differentially stained constitutive heterochromatin of human and murine chromosomes. Chromosoma (Berl.) 34, 51–72 (1971).

    CAS  Google Scholar 

  • Chicago Conference (1966): Standardization in human cytogenetics. Birth defects: Original article series, vol. II, No. 2. New York: The National Foundation 1966.

    Google Scholar 

  • Christenson, L. P.: Applied photography in chromosome studies. In: Human chromosome methodology, p. 129–153, J. J. Yunis, ed. New York: Academic Press 1965.

    Google Scholar 

  • Cohen, M. M., Shaw, M. W.: Specific effects of viruses and antimetabolites on mammalian chromosomes. In Vitro 1, 50–66 (1965).

    Google Scholar 

  • Cohen, M. M., Shaw, M. W., MacCluer, J. W.: Racial differences in the length of the human Y chromosome. Cytogenetics 5, 34–52 (1966).

    PubMed  CAS  Google Scholar 

  • Comings, D. E.: The rationale for an ordered arrangement of chromatin in the interphase nucleus. Amer. J. hum. Genet. 20, 440–460 (1968).

    PubMed  CAS  Google Scholar 

  • Comings, D. E., Avelino, E., Okada, T. A., Wyandt, H. E.: The mechanism of C- and G-banding of chromosomes. Exp. Cell Res. 77, 469–493 (1973).

    PubMed  CAS  Google Scholar 

  • Cooke, P.: Patterns of secondary association between the acrocentric autosomes of man. Chromosoma (Berl.) 36, 221–240 (1972).

    CAS  Google Scholar 

  • Court Brown, W. M.: Human population cytogenetics. Amsterdam: North-Holland Publ. Co. 1967.

    Google Scholar 

  • Court Brown, W. M., Buckton, K. E., Jacobs, P. A., Tough, I. M., Kuensberg, E. V., Knox, J. E. D.: Chromosome studies on adults. Eugenics laboratory memoir series XLII, The Galton laboratory. Cambridge: University Press 1966.

    Google Scholar 

  • Court Brown, W. M., Smith, P. G.: Human population cytogenetics. Brit. med. Bull. 25, 74–80 (1969).

    PubMed  CAS  Google Scholar 

  • Craig, A. P., Shaw, M. W.: Autoradiographic studies of the human Y chromosome. Chromosoma (Berl.) 32, 364–377 (1971).

    CAS  Google Scholar 

  • Craig-Holmes, A. P., Moore, F. B., Shaw, M. W.: Polymorphism of human C-band heterochromatin. I. Frequency of variants. Amer. J. hum. Genet. 25, 181–192 (1973).

    PubMed  CAS  Google Scholar 

  • Craig-Holmes, A. P., Shaw, M. W.: Polymorphism of human constitutive heterochromatin. Science 174, 702–704 (1971).

    PubMed  CAS  Google Scholar 

  • Denver Report 1960: A proposed standard system of nomenclature of human mitotic chromosomes. Lancet 1960 I, 1063–1065.

    Google Scholar 

  • Drets, M. E., Shaw, M. W.: Specific banding patterns of human chromosomes. Proc. nat. Acad. Sci. (Wash.) 68, 2073–2077 (1971).

    CAS  Google Scholar 

  • Dutrillaux, B.: Nouveau système de marquage chromosomique: les bandes T. Chromosoma (Berl.) 41, 395–402 (1973).

    CAS  Google Scholar 

  • Dutrillaux, B., Grouchy, de, J., Finaz, C., Lejeune, J.: Mise en évidence de la structure fine des chromosomes humains par digestion enzymatique (pronase en particulier). C. R. Acad. Sci. (Paris) 273, 587–588 (1971).

    CAS  Google Scholar 

  • Dutrillaux, B., Laurent, C., Robert, J. M., Lejeune, J.: Inversion péricentrique, inv(10), chez la mère et aneusomie de recombinaison, inv(10), rec(10), chez son fils. Cytogenet. Cell Genet. (Basel) 12, 245–253 (1973).

    CAS  Google Scholar 

  • Dutrillaux, B., Lejeune, J.: Sur une nouvelle technique d’analyse du caryotype humain. C. R. Acad. Sci. (Paris) 272, 2638–2640 (1971).

    CAS  Google Scholar 

  • Evans, H. J.: Actions of radiations on human chromosomes. Phys. in Med. Biol. 17, 1–13 (1972).

    CAS  Google Scholar 

  • Evans, H. J., Buckton, K. E., Sumner, A. T.: Cytological mapping of human chromosomes: results obtained with quinacrine fluorescence and the acetic-saline Giemsa technique. Chromosoma (Berl.) 35, 310–325 (1971).

    CAS  Google Scholar 

  • Ferguson-Smith, M. A.: The techniques of human cytogenetics. Amer. J. Obstet. Gynec. 90, 1035–1054 (1964).

    PubMed  Google Scholar 

  • Ferguson-Smith, M. A.: Chromosomal abnormalities. II. Sex chromosome defects. In: Medical genetics, p. 16–26, V. A. McKusick and R. Clairborne (eds.). New York: HP Publishing Co., Inc. 1973.

    Google Scholar 

  • Ferguson-Smith, M. A.: Autosomal polymorphism. In: Medical genetics today, D. L. Rimoin, R. N. Schimke, eds. Birth defects: Original article series. New York: The National Foundation (in press).

    Google Scholar 

  • Ferguson-Smith, M. A., Ferguson-Smith, M. E., Ellis, P. M., Dickson, M.: The sites and relative frequencies of secondary constrictions in human somatic chromosomes. Cytogenetics 1, 325–343 (1962).

    PubMed  CAS  Google Scholar 

  • Ferguson-Smith, M. A., Handmaker, S. D.: The association of satellited chromosomes with specific chromosomal regions in cultured human somatic cells. Ann. hum. Genet. 27, 143–156 (1963).

    PubMed  CAS  Google Scholar 

  • Ford, C. E.: Mosaics and chimaeras. Brit. med. Bull. 25, 104–109 (1969).

    PubMed  CAS  Google Scholar 

  • Ford, E. H. R.: Human chromosomes. London and New York: Academic Press 1973.

    Google Scholar 

  • Gagné, R., Laberge, C.: Specific cytological recognition of the heterochromatic segment of number 9 chromosome in man. Exp. Cell Res. 73, 239–242 (1972).

    PubMed  Google Scholar 

  • Gagné, R., Tanguay, R., Laberge, C.: Differential staining patterns of hetero-chromatin in man. Nature New Biol. (Lond.) 232, 29–30 (1971).

    Google Scholar 

  • Galperin, H.: Relative positions of homologous chromosomes or groups in male and female metaphase figures. Humangenetik 7, 265–274 (1969).

    PubMed  CAS  Google Scholar 

  • Ganner, E., Evans, H. J.: The relationship between patterns of DNA replication and of quinacrine fluorescence in the human chromosome complement. Chromosoma (Berl.) 35, 326–341 (1971).

    CAS  Google Scholar 

  • German, J.: The pattern of DNA synthesis in the chromosomes of human blood cells. J. Cell Biol. 20, 37–55 (1964a).

    PubMed  CAS  Google Scholar 

  • German, J.: Identification and characterization of human chromosomes by DNA replication sequence. In: Cytogenetics of cells in culture, p. 191–207, R. J. C. Harris, ed. New York-London: Academic Press 1964b.

    Google Scholar 

  • German, J.: The chromosomal structural load in man. Tex. Rep. Biol. Med. 24, 347–364 (1966).

    Google Scholar 

  • German, J.: Autoradiographic studies of human chromosomes. I. A review. Proceedings of the Third Int. Congr. Human Genetics, p. 123–136, J. F. Crow, J. V. Neel, eds. Baltimore: Johns Hopkins Press 1967.

    Google Scholar 

  • German, J.: Genes which increase chromosomal instability in somatic cells and predispose to cancer. Progr. med. Genet. 8, 61–101 (1972).

    Google Scholar 

  • Gey, W.: Untersuchungen über die DNS-Replikationsmuster der Chromosomengruppen 4–5, 13–15 und 21–22 an in vitro gezüchteten menschlichen Lymphocyten. Humangenetik 2, 246–261 (1966).

    PubMed  CAS  Google Scholar 

  • Giannelli, F., Howlett, R. M.: The identification of the chromosomes of the D group (13–15) Denver: An autoradiographic and measurement study. Cytogenetics 5, 186–205 (1966).

    PubMed  CAS  Google Scholar 

  • Giannelli, F.: Human chromosomes DNA synthesis, Monographs in human genetics, vol. 5, L. Beckman, M. Hauge, eds. Basel: Karger 1970.

    Google Scholar 

  • Gilbert, C. W., Muldal, S.: Measurement and computer system for karyotyping human and other cells. Nature (Lond.) 230, 203–207 (1971).

    CAS  Google Scholar 

  • Grzeschik, K. H., Allderdice, P. W., Grzeschik, A., Opitz, J. M., Miller, O. J., Siniscalco, M.: Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation. Proc. nat. Acad. Sci. (Wash.) 69, 69–73 (1972).

    CAS  Google Scholar 

  • Hamerton, J. L.: Human cytogenetics, vol. I, General cytogenetics, and vol. II, Clinical cytogenetics. New York-London: Academic Press 1971.

    Google Scholar 

  • Hamerton, J. L., Ray, M., Abbott, J., Williamson, C., Ducass, G. C.: Chromosome studies in a neonatal population. Canad. med. Ass. J. 106, 776–779 (1972).

    PubMed  CAS  Google Scholar 

  • Hausen, H., zur: Induction of specific chromosomal aberrations by adenovirus type 12 in human embryonic kidney cells. J. Virol. 1, 1174–1185 (1967).

    PubMed  Google Scholar 

  • Hirschhorn, K.: Chromosomal abnormalities. I. Autosomal defects. In: Medical genetics, p. 3–14, V. A. McKusick and R. Clairborne (eds.). New York: HP Publishing Co., Inc. 1973.

    Google Scholar 

  • Hughes, D. T.: Quantitative studies in karyotype analysis. In: Chromosomes today, vol. 1, p. 188–210, C. D. Darlington, K. R. Lewis, eds. Edinburgh-London: Oliver & Boyd 1966.

    Google Scholar 

  • Jacobs, P. A.: Structural abnormalities of the sex chromosomes. Brit. med. Bull. 25, 94–103 (1969).

    PubMed  CAS  Google Scholar 

  • Jacobs, P. A., Frackiewicz, A., Law, P.: Incidence and mutation rates of structural rearrangements of the autosomes in man. Ann. hum. Genet. 35, 301–319 (1972).

    PubMed  CAS  Google Scholar 

  • Jacobs, P. A., Price, W. H., Law, P., eds.: Human population cytogenetics, Pfizer medical monographs 5. Edinburgh: Edinburgh Univ. Press 1970.

    Google Scholar 

  • Kimberling, W. J.: Computers and gene localization. In: Perspectives in cytogenetics, p. 131–147, S. W. Wright, B. F. Crandall, L. Boyer, eds. Springfield, Illinois: Charles C. Thomas 1972.

    Google Scholar 

  • Leisti, J.: Structural variation in human mitotic chromosomes. Ann. Acad. Sci. fenn. A, IV Biologica 179, 1–69 (1971).

    CAS  Google Scholar 

  • Lejeune, J., Dutrillaux, B., Lafourcade, J., Berger, R., Abonyi, D., Rethoré, M. O.: Endoréduplication sélective du bras long du chromosome 2 chez une femme et sa fille. C. R. Acad. Sci. (Paris) 266, 24–26 (1968).

    CAS  Google Scholar 

  • Licznerski, G., Lindsten, J.: Trisomy 21 in man due to maternal non-disjunction during the first meiotic division. Hereditas (Lund) 70, 153–154 (1972).

    CAS  Google Scholar 

  • Littlefield, L. G., Goh, K.-O.: Cytogenetic studies in control men and women. I. Variations in aberration frequencies in 29,709 metaphases from 305 cultures obtained over a three-year period. Cytogenet. Cell Genet. (Basel) 12, 17–34 (1973).

    CAS  Google Scholar 

  • London Report 1963: The London Conference on the normal human karyotype. Cytogenetics 2, 264–268 (1963).

    Google Scholar 

  • Lubs, H.A.: A marker X chromosome. Amer. J. hum. Genet. 21, 231–244 (1969).

    PubMed  CAS  Google Scholar 

  • Lubs, H. A., Ledley, R. S.: Automated analysis of differentially stained human chromosomes. In: Chromosome identification, p. 61–76, T. Caspersson and L. Zech (eds.). Nobel Symposium 23. New York and London: Academic Press 1973.

    Google Scholar 

  • Lubs, H. A., Ruddle, F. H.: Applications of quantitative karyotypy to chromosome variation in 4,400 consecutive newborns. In: Human population cytogenetics, p. 120–142, P. A. Jacobs, W. H. Price, P. Law, eds. Pfizer medical monographs 5. Edinburgh: Edinburgh Univ. Press 1970.

    Google Scholar 

  • Lubs, H. A., Ruddle, F. H.: Chromosome polymorphism in American negro and white populations. Nature (Lond.) 233, 134–136 (1971).

    CAS  Google Scholar 

  • Magenis, R. E., Hecht, F., Lovrien, E. W.: Heritable fragile site on chromosome 16: probable localisation of haptoglobin locus in man. Science 170, 85–87 (1970).

    PubMed  CAS  Google Scholar 

  • Manolov, G., Manolova, Y., Levan, A.: The fluorescence pattern of the human karyotype. Hereditas (Lund) 69, 273–286 (1971).

    CAS  Google Scholar 

  • Mikelsaar, A.-V. N., Tüür, S. J., Käosaar, M. E.: Human karyotype polymorphism. I. Routine and fluorescence microscopic investigation of chromosomes in a normal adult population. Humangenetik 20, 89–101 (1973).

    PubMed  CAS  Google Scholar 

  • Miller, D. A., Allderdice, P. W., Miller, O. J.: Quinacrine fluorescence patterns of human D group chromosomes. Nature (Lond.) 232, 24–27 (1971).

    CAS  Google Scholar 

  • Miller, O. J.: Autoradiography in human cytogenetics. In: Advances in human genetics, vol. 1, p. 35–130, H. Harris and K. Hirschhorn, eds. New York-London: Plenum Press 1970.

    Google Scholar 

  • Miller, O. J., Breg, W. R., Mukherjee, B. B., Gamble, A. V. N., Christakos, A. C.: Non-random distribution of chromosomes in metaphase figures from cultured leucocytes. II. Peripheral location of chromosomes 13, 17–18, and 21. Cytogenetics 2, 152–167 (1963).

    Google Scholar 

  • Miller, O. J., Miller, D. A., Warburton, D.: Application of new staining techniques to the study of human chromosomes. Progr. med. Genet. 9, 1–47 (1973).

    CAS  Google Scholar 

  • Milunsky, A., Littlefield, J. W., Atkins, L.: Tetraploidy in amniotic-fluid cells. Lancet 1970 II, 979.

    Google Scholar 

  • Naiman, J. L., Punnett, H. H., Destiné, M. L., Lischner, H. W.: Yy chromosomal chimaerism. Lancet 1966 II, 590.

    Google Scholar 

  • Neurath, P. W., Enslein, K.: Human chromosome analysis as computed from arm lengths measurements. Cytogenetics 8, 337–354 (1969).

    PubMed  CAS  Google Scholar 

  • Newcombe, H. B.: Record linking; the design of efficient systems for linking records into individual and family histories. Amer. J. hum. Genet. 19, 335–359 (1967).

    PubMed  CAS  Google Scholar 

  • Ockey, C. H.: The positions of chromosomes at metaphase in human fibroblasts and their DNA synthesis behavior. Chromosoma (Berl.) 27, 308–320 (1969).

    CAS  Google Scholar 

  • Pardue, M. L., Gall, J. G.: Chromosomal localization of mouse satellite DNA. Science 168, 1356–1358 (1970).

    PubMed  CAS  Google Scholar 

  • Paris Conference (1971): Standardization in human cytogenetics. Birth defects: Original article series, vol. VIII, No 7. New York: The National Foundation 1972.

    Google Scholar 

  • Passarge, E.: Advances in human cytogenetics. I. Basic considerations. In: Human genetics, p. 26–37, Birth defects: Original article series, vol. IV, No 6. New York: The National Foundation 1968.

    Google Scholar 

  • Passarge, E.: Spontaneous chromosomal instability. Humangenetik 16, 151–157 (1972).

    PubMed  CAS  Google Scholar 

  • Patau, K.: Identification of chromosomes. In: Human chromosome methodology, p. 155–186, J. J. Yunis, ed. New York-London: Academic Press 1965.

    Google Scholar 

  • Patil, S. R., Lubs, H. A.: Non-random association of human acrocentric chromosomes. Humangenetik 13, 157–159 (1971).

    PubMed  CAS  Google Scholar 

  • Patil, S. R., Merrick, S., Lubs, H. A.: Identification of each human chromosome with a modified Giemsa stain. Science 173, 821–823 (1971).

    PubMed  CAS  Google Scholar 

  • Pawlowitzki, I. H.: The correspondence between quinacrine banding patterns and sites of secondary constrictions in human chromosomes. Humangenetik 15, 236–244 (1972).

    PubMed  CAS  Google Scholar 

  • Pawlowitzki, I. H., Cenani, A.: Sporadic triploid cells in human blood and fibroblast cultures. Humangenetik 5, 65–69 (1967).

    PubMed  CAS  Google Scholar 

  • Pearson, P. L., Bobrow, M., Vosa, C. G.: Technique for identifying Y chromosomes in human interphase nuclei. Nature (Lond.) 226, 78–80 (1970).

    CAS  Google Scholar 

  • Penrose, L. S.: A note on the mean measurement of human chromosomes. Ann. hum. Genet. 28, 195–196 (1964).

    PubMed  CAS  Google Scholar 

  • Perry, J.: System for semi-automatic chromosome analysis. Nature (Lond.) 224, 800–803 (1969).

    CAS  Google Scholar 

  • Pierre, R. V., Hoagland, H. C.: 45,X cell lines in adult men: Loss of Y chromosome, a normal aging phenomenon? Mayo Clin. Proc. 46, 52–55 (1971).

    PubMed  CAS  Google Scholar 

  • Powsner, E. R.: Frequency of endoreduplication in short-term cultures of human blood cells. J. Lab. clin. Med. 67, 610–614 (1966).

    CAS  Google Scholar 

  • Renwick, J. H.: The mapping of human chromosomes. Ann. Rev. Genet. 5, 81–120 (1971).

    PubMed  CAS  Google Scholar 

  • Robinson, J. A.: Origin of extra chromosome in trisomy 21. Lancet 1973 I, 131–133.

    Google Scholar 

  • Robinson, J. A., Buckton, K. E.: Quinacrine fluorescence of variant and abnormal human Y chromosomes. Chromosoma (Berl.) 35, 342–352 (1971).

    CAS  Google Scholar 

  • Ruddle, F. H., Riccuti, F., McMorris, F. A., Tischfeld, J., Creagan, R., Darlington, G., Chen, T.: Somatic cell genetic assignment of peptidase C and the Rh linkage group to chromosome A-1 in man. Science 176, 1429–1431 (1972).

    PubMed  CAS  Google Scholar 

  • Rudkin, G. T.: Photometric measurements of individual metaphase chromosomes. In Vitro 1, 12–20 (1965).

    Google Scholar 

  • Saksela, E., Moorhead, P. S.: Enhancement of secondary constrictions and the heterochromatic X in human cells. Cytogenetics 1, 225–244 (1962).

    PubMed  CAS  Google Scholar 

  • Sasaki, M. S., Makino, S.: The demonstration of secondary constrictions in human chromosomes by means of a new technique. Amer. J. hum. Genet. 15, 24–33 (1963).

    PubMed  CAS  Google Scholar 

  • Schmid, E., Bauchinger, M.: Structural polymorphism in chromosome 17. Nature (Lond.) 221, 387–388 (1969).

    CAS  Google Scholar 

  • Schmid, W.: DNA replication patterns of human chromosomes. Cytogenetics 2, 175–193 (1963).

    CAS  Google Scholar 

  • Schmid, W.: Satellites on the long Y chromosome arm: a familial Y autosome translocation in man. Cytogenetics 8, 415–426 (1969).

    PubMed  CAS  Google Scholar 

  • Schmid, W., Vischer, D.: Spontaneous fragility of an abnormally wide secondary constriction region in a human chromosome No. 9. Humangenetik 7, 22–27 (1969).

    PubMed  CAS  Google Scholar 

  • Schnedl, W.: Fluorescenzuntersuchungen über die Längen Variabilität des Y-Chromosoms beim Menschen. Humangenetik 12, 188–194 (1971).

    PubMed  CAS  Google Scholar 

  • Schnedl, W.: Banding pattern of human chromosomes. Nature New Biol. (Lond.) 233, 93–94 (1971).

    CAS  Google Scholar 

  • Schnedl, W.: Analysis of the human karyotype by the recent banding technique. Arch. Klaus-Stiftg Vererb.-Forsch, (in press).

    Google Scholar 

  • Schwanitz, G., Rott, H.-D., Köllermann, M.: Vergrößerte sekundäre Einschnürung des Chromosoms C9 bei Mutter und Kind. Humangenetik 11, 258–263 (1971).

    PubMed  CAS  Google Scholar 

  • Schwarzacher, H. G., Schnedl, W.: Endoreduplication in human fibroblast cultures. Cytogenetics 4, 1–18 (1965).

    Google Scholar 

  • Seabright, M.: A rapid banding technique for human chromosomes. Lancet 1971 II, 971–972.

    Google Scholar 

  • Seabright, M.: The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man. Chromosoma (Berl.) 36, 204–210 (1972).

    CAS  Google Scholar 

  • Shaw, M. W.: Computers and chromosomes: The state of the art. In: Perspectives in cytogenetics, p. 309–315, S. W. Wright, B. F. Crandall, L. Boyer, eds. Springfield: Charles C. Thomas 1972.

    Google Scholar 

  • Spence, M. A., Francke, U., Forsythe, A. B.: Evidence against the peripheral location of the Y chromosome in human metaphase cells. Cytogenet. Cell Genet. (Basel) 12, 49–52 (1973).

    CAS  Google Scholar 

  • Summitt, R. L.: Cytogenetics in mentally defective children with anomalies: a controlled study. J. Pediat. 74, 58–66 (1969).

    PubMed  CAS  Google Scholar 

  • Sumner, A. T., Evans, H. J., Buckland, R. A.: New technique for distinguishing between human chromosomes. Nature New Biol. (Lond.) 232, 31–32 (1971).

    CAS  Google Scholar 

  • Turpin, R., Lejeune, J.: Les chromosomes humains. Caryotype normal et variations pathologiques. Paris: Gauthier-Villars 1965.

    Google Scholar 

  • Unnérus, V., Fellman, J., de la Chapelle, A.: The length of the human Y chromosome. Cytogenetics 6, 213–227 (1967).

    PubMed  Google Scholar 

  • Wahrman, J., Atidia, J., Goitein, R., Cohen, T.: Pericentric inversions of chromosome 9 in two families. Cytogenetics 11, 132–144 (1972).

    PubMed  CAS  Google Scholar 

  • Wald, N., Ranshaw, R. W., Herron, J. M., Castle, J. G.: Progress on an automatic system for cytogenetic analysis. In: Human population cytogenetics, p. 263–280, P. A. Jacobs, W. H. Price, P. Law, eds., Pfizer medical monographs 5. Edinburgh: Edinburgh Univ. Press 1970.

    Google Scholar 

  • Wang, H. C., Fedoroff, S.: Banding in human chromosome treated with trypsin. Nature New Biol. (Lond.) 235, 52–53 (1972).

    CAS  Google Scholar 

  • Wikramanyake, E., Renwick, J. H., Ferguson-Smith, M. A.: Chromosomal heteromorphisms in the assignment of loci to particular chromosomes: a study of four pedigrees. Ann. Génét. 14, 245–256 (1971).

    Google Scholar 

  • Wright, S. W., Crandall, B. F., Boyer, L., eds.: Perspectives in cytogenetics. The next decade. Springfield, Illinois: Charles C. Thomas 1972.

    Google Scholar 

  • Yesley, G. J.: Methods of coding and filing family records. In: The metabolic basis of inherited disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, Eds.), 2nd edit., p. 1373–1379. New York: McGraw-Hill Book Co. 1966.

    Google Scholar 

Download references

Authors
  1. Eberhard Passarge
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Histologisch-Embryologisches Institut der Universität, Schwarzspanierstraße 17, A-1090, Wien, Austria

    H. G. Schwarzacher

  2. Institut für Humangenetik und Anthropologie der Universität, 7800, Freiburg i. Br., Albertstraße 11, Germany

    U. Wolf

  3. Institut für Humangenetik der Universität, 2000, Hamburg 20, Martinistraße 52, Germany

    E. Passarge

Rights and permissions

Reprints and permissions

Copyright information

© 1974 Springer-Verlag Berlin · Heidelberg

About this chapter

Cite this chapter

Passarge, E. (1974). The Human Karyotype Analysis of Chromosomes in Mitosis and Evaluation of Cytogenetic Data. In: Schwarzacher, H.G., Wolf, U., Passarge, E. (eds) Methods in Human Cytogenetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-65787-0_8

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-65787-0_8

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-65789-4

  • Online ISBN: 978-3-642-65787-0

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation