Abstract
Disputed parentage is not a problem unique to our modern society. One of the first recorded cases dating back to Biblical times actually involved disputed maternity. After considerable quarreling over who was the true mother of a child, two women took their complaints to King Solomon for resolution. Solomon offered to cut the child in half so that the two women could then share the child equally. The true mother dropped her claim in order to save the life of her child, thus allowing Solomon to make a fair judgement (Old Testament, I Kings 3:16–27). Equally creative methods, employing blood tests of sorts, are found in twelfth-century Japanese folklore. In situations where an individual was claiming to be the heir to an estate, his finger was pricked and the blood was allowed to drip onto the skeleton of the deceased. If the blood soaked in, a relationship was established. Another popular method for determining relationships was to allow drops of blood from each individual to fall into a basin of water. If the drops came together, the claim was upheld [1]. One of the most important events leading to the development of modern paternity testing was Landsteiner’s discovery of the ABO blood group. In his 1901 paper Landsteiner suggested that the ABO system might be useful in blood transfusions and criminology. This breakthrough, coupled with the work done by Dunern and Hirszfeld in 1910 showing Mendelian inheritance of A, B and O, provided a foundation for paternity testing [2]. Until the late 1950s the only blood systems used were ABO, Rh and MN. In most cases a man could not expect much more than a 50/50 chance of being exonerated if falsely accused [1]. With the addition of at least 20 other red cell enzymes, red cell antigens, and serum proteins, as well as HLA and chromosome heteromorphism analysis, a falsely accused man’s chance of being excluded approached 100% by the mid-1980s. These technologies were for all practical purposes replaced in the early 1990s by a more cost-effective DNA technology.
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References
American Association of Blood Banks (1978). Paternity Testing. Washington, DC: AABB.
Race RR, Sanger R (1975). Blood Groups in Man, 6th edn. Oxford: Blackwell Scientific Publications, p. 8.
Magenis RE, Chamberlin J, Overton K (1974). Sequential Q- and C-band variants: inheritance in four generations of a family. Thirteenth Annual Somatic Cell Genetics Conference, US Virg in Islands.
McKenzie WH, Lubs HA (1975). Human Q and C chromosomal variations: Distribution and incidence. Cytogenet Cell Genet. 14: 97–115.
Müller HJ, Klinger HP, Glasser M (1975). Chromosome polymorphism in a human newborn population. II. Potentials for polymorphic chromosome variants for characterizing the ideogram of an individual. Cytogenet Cell Genet. 15: 239–55.
Jacobs PA (1977). Human chromosome heteromorphism (variants). Prog Med Genet. 2: 251–74.
Magenis E, Palmer CG, Wang L et al. (1977). Heritability of chromosome banding variants. In: Population Cytogenetics. New York: Academic Press, pp. 179–188.
Van Dyke DL, Palmer CG, Nance WE, Yu PL (1977). Chromosome polymorphism and twin zygosity. Am J Hum Genet. 29: 431–47.
Verma RS, Dosik H (1980). Human chromosomal heteromorphisms: nature and clinical significance. Int Rev Cytol. 62: 361–83.
Chapelle A, Fellman J, Unnerus V (1967). Determination of human paternity from the length of the Y chromosome. Ann Genet. 10: 60–4.
Arrighi FE, Hjsu TC (1971). Localization of heterochromatin in human chromosomes. Cytogenetics. 10: 81–6.
Caspersson T, Lomakka G, Zech L (1971). The 24 fluorescence patterns of human metaphase chromosomes–distinguishing characters and variability. Hereiditas. 67: 89–102.
Gürtler H, Niebuhr E (1981). The use of chromosome variants in paternity cases. In: 9. Internatianale Tagung der Gesellschaft fur forensisch Blutgruppenkund. Bern: Wurzburg, Schmitt & Meyer, pp. 597–601.
Olson SB, Magenis RE, Rowe SI, Lovrien EW (1983). Chromosome heteromorphism analysis in cases of disputed paternity. Am J Med Genet. 15: 47–55.
Hauge M, Poulsen H, Halberg A, Mikkelsen M (1975). The value of fluorescence markers in the distinction between maternal and fetal chromosomes. Humangenetik. 26: 187–91.
Olson SB, Magenis RE, Lovrien EW (1986). Human chromosome variation: The discriminatory power of Q-band heteromorphism (variant) analysis in distinguishing between individuals, with specific application to cases of questionable paternity. Am J Hum Genet. 38: 235–52.
Olson S, Magenis E, Lovrien E, Geyer J, Ryals L, Morrisey J (1984). Resolution of paternity disputes involving relatives as alleged fathers using chromosome heteromorphism analysis. Am J Hum Genet. 36: 108S.
Olson SB, Magenis RE, Lovrien EW (1986). Human chromosome variation: the discriminatory power of Q-band heteromorphism (variant) analysis in distinguishing between individuals, with specific application to cases of questionable paternity. Am J Hum Genet. 38: 235–52.
Jonasson J, Therkelsen AJ, Lauritsen JG, Lindsten J (1972). Origin of triploidy in human abortuses. Hereditas. 71: 168–71.
Kajii T, Niikawa N (1977). Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers. Cytogenet Cell Genet 18: 109–25.
Jacobs PA, Angell RR, Buchanan IM, Hassold TJ, Matsuyama AM, Manuel B (1978). The origin of human triploids. Ann Hum Genet. 42: 49–57.
Lauritsen JG, Bolund L, Friedrich U, Therkelsen AJ (1979). Origin of triploidy in spontaneous abortuses. Ann Hum Genet. 43: 1–5.
Galton M, Benirschke K (1959). Forty-six chromosomes in an ovarian teratoma. Lancet. 2: 761–2.
Corfman PA, Richart RM (1964). Chromosome number and morphology of benign ovarian cystic teratomas. N Engl J Med. 271: 1241–4.
Linder D, McKaw BK, Hecht F (1975). Parthenogenic origin of benign ovarian teratomas. N Engl J Med. 292: 63–6.
Kajii T, Ohama K (1977). Androgenetic origin of hydatidiform mole. Nature. 268: 633–4.
Robinson JA (1973). Origin of extra chromosome in trisomy 21. Lancet. 1: 131–3.
Uchida IA (1973). Paternal origin of the extra chromosome in Down’s syndrome. Lancet. 2: 1258.
Schmidt R, Dar H, Nitowsky HM (1975). Origin of extra 21 chromosome in patients with Down syndrome. Pediatr Res. 9: 367a.
Wagenbichler P (1976). Origin of the supernumerary chromosome in Down’s syndrome. ICS 397. V International Congress Hum Genet. Chicago: Excerpta Medica, p. 167a.
Magenis RE, Overton KM, Chamberlin J, Brady T, Lovrien E (1977). Parental origin of the extra chromosome in Down’s syndrome. Hum Genet. 37: 7–16.
Mikkelsen M, Poulsen H, Grinsted J, Lange A (1980). Non-disjunction in trisomy 21: study of chromosomal heteromorphisms in 110 families. Ann Hum Genet. 44: 17.
Magenis RE, Chamberlin J (1981). Parental origin of nondisjunction. In: de la Cruz FF, Gerald PS, editors. Trisomy 21 (Down Syndrome): Research Perspectives. Baltimore: University Press, pp. 77–93.
Olson SB, Magenis RE (1988). Preferential paternal origin of de novo structural chromosome rearrangements. In: Daniel A, editor. The Cytogenetics of Mammalian Autosomal Rearrangements. New York: Alan R. Liss, pp. 583–599.
Butler MG, Palmer CG (1983). Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet. 1: 1285–6.
Butler MG, Meany FJ, Palmer CG (1986). Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet. 23: 793–809.
Mattei JF, Mattei MG, Giraud F (1983). Prader-Willi syndrome and chromosome 15: a clinical discussion of 20 cases. Hum Genet. 64: 356–61.
Nicholls RD, Knoll JH, Glatt K et al (1989). Restriction fragment length polymorphism with proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet. 33: 66–77.
Magenis RE, Toth-Fejel S, Allen LJ et al. (1990). Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. Am J Med Genet 35: 333–49.
Donlon T (1988). Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes. Hum Genet. 80: 322–8.
Knoll JHM, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA (1989). Angelman and Prader-Willi syndromes share a common chromosome deletion but differ in parental origin of the deletion. Am J Med Genet. 32: 285–90.
Pembrey M, Fennell SJ, Van den Berghe J et al. (1989). The association of Angelman’s syndrome with deletions within 15q11–13. J Med Genet. 26: 73–7.
Williams CA, Gray BA, Hendrickson JE, Stone JW, Cantu ES (1989). Incidence of 15q deletions in the Angelman syndrome: a survey of 12 affected persons. Am J Med Genet. 32: 339–45.
Maraschio P, Zuffardi O, Bernardi F et al. (1981). Preferential maternal derivation in inv dup(15): Analysis of eight new cases. Hum Genet. 57: 345–50.
Opheim KE, Brittingham A, Chapman D, Norwood TH (1995). Balanced reciprocal translocation mosaicism: How frequent? Am J Med Genet. 57: 601–4.
McFadden DE, Langlois S (1997). Meiotic origin of tripoidy. Med Genet Suppl. 9: 525.
Zaragoza MV, Surti U, Redline RW, Millie E, Chakravarti A, Hassold T (2000). Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with partial hydatidiform mole. Am J Hum Genet. 66: 1807–20.
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Olson, S.B., Magenis, R.E. (2004). Technical Variables and the Use of Heteromorphisms in the Study of Human Chromosomes. In: Wyandt, H.E., Tonk, V.S. (eds) Atlas of Human Chromosome Heteromorphisms. Springer, Dordrecht. https://doi.org/10.1007/978-94-017-0433-5_5
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DOI: https://doi.org/10.1007/978-94-017-0433-5_5
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