Summary
We investigated six Robertsonian translocations, including two cases of rob(13q14q), one of rob(14q21q), one of rob(13q22q), and two of rob(21q21q), by means of fluorescencein situ hybridization (FISH) using five repetitive DNA probes: two alpha-satellite DNAs (D21Z1/D13Z1 and D14Z1/D22Z1), satellite III DNA, beta-satellite DNA, and ribosomal DNA. Single color FISH successfully defined the breakpoints in four cases of the six. Since the remaining two cases, rob(13q22q) and rob(21q21q), revealed to retain rDNA, we tried to define the breakpoints in detail by dual color FISH in these rare types. In the rob(13q22q) the chromosomal breakage on chromosome 22 was likely to have occurred within the rDNA region and that the chromosome 13 breakpoint was within the alpha-satellite region. In one rob(21q21q) case we defined the breakpoint on one chromosome distal to, or within, the beta-satellite region distal to the rDNA, and the other chromosome breakage had occurred within alpha-satellite DNA. Our results underscored the power of dual-color FISH for defining the precise locations of breakpoints in Robertsonian translocations.
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Antonarakis SE, Adelsberger PA, Petersen MB, Binkert F, Schinzel AA (1990): Analysis of DNA polymorphisms suggests that mostde novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. Am J Hum Genet47: 968–972
Brasch JM, Smyth DR (1979): Absence of silver bands in human Robertsonian translocation chromosomes. Cytogenet Cell Genet24: 122–125
Cheung SW, Sun L, Featherstone T (1990): Molecular cytogenetic evidence to characterize breakpoint regions in Robertsonian translocations. Cytogenet Cell Genet54: 97–102
Earle E, Shaffer LG, Kalitsis P, McQuillan C, Dale S, Choo KHA (1992): Identification of DNA sequences flanking the breakpoint of human t(14q21q) Robertsonian translocations. Am J Hum Genet50: 717–724
Grasso M, Giovannucci UML, Tavellini F, Perroni L, Dagna BF (1989): Isochromosome not translocation in trisomy 21q21q. Hum Genet84: 63–65
Gravholt CH, Friedrich U, Caprani M, Jorgensen AL (1992): Breakpoints in Robertsonian translocations are located to satellite III DNA by fluorescencein situ hybridization. Genomics14: 924–930
Greig GM, Willard HF (1992):β-Satellite DNA: Characterization and localization of two subfamilies from the distal and proximal short arms of the human acrocentric chromosomes. Genomics12: 573–580
Hamerton JL, Canning N, Ray M, Smith S (1975): A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet8: 223–243
Han JY, Choo KHA, Shaffer LG (1994): Molecular cytogenetic characterization of 17 rob(13q14q) Robertsonian translocations by FISH, narrowing the region containing the breakpoints. Am J Hum Genet55: 960–967
Kurahashi H, Akagi K, Karakawa K, Nakamura T, Dumanski JP, Sano T, Okada S, Takai S, Nishisho I (1994): Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome. Hum Genet93: 248–254
Mattei MG, Mattei JF, Ayme S, Giraud F (1979): Dicentric Robertsonian translocations in man: 17 cases studied by R, C, and N banding. Hum Genet26: 14–21
Mikkelsen M, Basli A, Poulsen H (1980): Nuclelous organizer regions in translocations involving acrocentric chromosomes. Cytogenet Cell Genet26: 14–21
Niebuhr E (1972): Dicentric and monocentric Robertsonian translocations in man. Humangenetik16: 217–226
Page SL, Shin JC, Han JY, Choo KHA, Shaffer IG (1996): Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet5: 1279–1288
Shaffer LG, Jackson CCK, Mayer JM, Brown JA, Spence JE (1991): A molecular genetic approach to the identification of isochromosomes of chromosome 21. Hum Genet86: 375–382
Takahashi E, Yamakawa K, Nakamura Y, Hori T (1992): A high-resolution cytogenetic map of human chromosome 3: Localization of 291 new cosmid markers by direct R-banding fluorescencein situ hybridization. Genomics13: 1047–1055
Therman E, Susman B, Denniston C (1989): The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet53: 49–65
Vissel B, Nagy A, Choo KH (1992): A satellite III sequence shared by human chromosomes 13, 14 and 21 that is contiguous with alpha satellite DNA. Cytogenet Cell Genet61: 81–86
Wolff DJ, Schwartz S (1992): Characterization of Robertsonian translocations by using fluorescencein situ hybridization. Am J Hum Genet50: 174–181
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Takahashi, Y., Fujita, H., Nakamura, Y. et al. Dual-color fish analysis of breakpoints on robertsonian translocations. Jap J Human Genet 42, 517–523 (1997). https://doi.org/10.1007/BF02767028
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DOI: https://doi.org/10.1007/BF02767028
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