Skip to main content

Robertsonian Translocations

  • Chapter
Human Chromosomes
  • 138 Accesses

Abstract

Robertsonian translocations refer to the recombination of whole chromosome arms. Such translocations take place most often between acrocentric or telocentric chromosomes. They have played an important role in the evolution of both plants and animals, as demonstrated by organisms within a species (or in closely related species) that have different chromosome numbers but the same number of chromosome arms. In the humans, Robertsonian translocations are the most common structurally abnormal chromosomes. Surprisingly, they seem to be much rarer in some other animal species, such as mice or cattle (cf. Ford, 1970).

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

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

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

  • Abe T, Morita M, Kawai K, et al (1975) Transmission of a t(13g22q) chromosome observed in three generations with segregation of the translocation D1-trisomy syndrome. Humangenetik 30: 207–215

    Article  PubMed  CAS  Google Scholar 

  • Atkins L, Bartsocas CS (1974) Down’s syndrome associated with two Robertsonian translocations, 45,XX, —15, — 21, +t(15g21 q) and 46,XX, — 21, + t(21 q21 q). J Med Genet 11: 306–309

    Article  PubMed  CAS  Google Scholar 

  • Balkan W, Martin RH (1983) Segregation of chromosomes into the spermatozoa of a man heterozygous for a 14;21 Robertsonian translocation. Am J Med Genet 16: 169–172

    Article  PubMed  CAS  Google Scholar 

  • Bartsch-Sandhoff M, Schade H (1973) Zwei subterminale Heterochromatin regionen bei einer seltenen Form einer 21/21-Translokation. Humangenetik 18: 329–336

    Article  PubMed  CAS  Google Scholar 

  • Caspersson T, Hultén M, Lindsten J, et al (1971) Identification of different Robertsonian translocations in man by quinacrine mustard fluorescence analysis. Hereditas 67: 213–220

    Article  PubMed  CAS  Google Scholar 

  • Chapman CJ, Gardner RJM, Veale AMO (1973) Segregation analysis of a large t(21q22q) family. J Med Genet 10: 362–366

    Article  PubMed  CAS  Google Scholar 

  • Cohen MM, Takagi N, Harrod EK (1968) Trisomy D, with two D/D translocation chromosomes. Am J Dis Child 115: 185–190

    PubMed  CAS  Google Scholar 

  • Daniel A, Lam-Po-Tang PRLC (1976) Structure and inheritance of some heterozygous Robertsonian translocations in man. J Med Genet 13: 381–388

    Article  PubMed  CAS  Google Scholar 

  • Evans JA, Canning N, Hunter AGW, et al (1978) A cytogenetic survey of 14,069 newborn infants. III. An analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations. Cytogenet Cell Genet 20: 96123

    Google Scholar 

  • Farah LMS,, de S Nazareth HR, Dolnikoff M et al (1975) Balanced homologous translocation t(22q22q) in a phenotypically normal woman with repeated spontaneous abortions. Humangenetik 28: 357–360

    PubMed  CAS  Google Scholar 

  • Ford CE (1970) The population cytogenetics of other mammalian species. In: Jacobs PA, Price WH, Law P (eds) Human population cyfogenetics. Williams and Wilkins, Baltimore, pp 221–239

    Google Scholar 

  • Fried K, Bukovsky J, Rosenblatt M, et al (1974) Familial translocation 15/22. A possible cause for abortions in female carriers. J Med Genet 11: 280–282

    Google Scholar 

  • Furbetta M, Falorni A, Antignani P, et al (1973) Sibship (21g21q) translocation Down’s syndrome with maternal transmission. J Med Genet 10: 371–375

    Article  PubMed  CAS  Google Scholar 

  • Gracias-Espinal R, Roberts SH, Duckett DP, et al (1982) Recurrent spontaneous abortions due to a homologous Robertsonian translocation (14q14q). J Med Genet 19: 465–467

    Article  PubMed  CAS  Google Scholar 

  • Hamerton JL (1970) Robertsonian translocations. In: Jacobs PA, Price WH, Law P (eds) Human population cytogenetics. Williams and Wilkins, Baltimore, pp 63–80

    Google Scholar 

  • Hamerton JL (1971) Human cytogenetics I. Academic, New York

    Google Scholar 

  • Harris DJ, Hankins L, Begleiter ML (1979) Reproductive risk of t(13q14q) carriers: case report and review. Am J Med Genet 3: 175–181

    Article  PubMed  CAS  Google Scholar 

  • Hecht F, Kimberling WJ (1971) Patterns of D chromosome involvement in human (DqDq) and ( DqGq) Robertsonian rearrangements. Am J Hum Genet 23: 361–367

    Google Scholar 

  • Hongell K, Gripenberg U, Iivanainen M (1972) Down’s syndrome. Incidence of translocations in Finland. Hum Hered 22: 7–14

    Google Scholar 

  • Hook EB, Hamerton JL (1977) The frequency of chromosome abnormalities detected in consecutive newborn studies—differences between studies— results by sex and by severity of phenotypic involvement. In: Hook EB, Porter IH (eds) Population cytogenetics. Academic, New York, pp 63–79

    Google Scholar 

  • Hsu TC, Pathak S, Basen BM, et al (1978) Induced Robertsonian fusions and tandem translocations in mammalian cell cultures. Cytogenet Cell Genet 21: 86–98

    Article  PubMed  CAS  Google Scholar 

  • Jacobs PA (1977) Structural rearrangements of the chromosomes in man. In: Hook EB, Porter IH (eds) Population cytogenetics. Academic, New York, pp 81–97

    Google Scholar 

  • John B, Freeman M (1975) Causes and consequences of Robertsonian exchange. Chromosoma 52: 123–136

    Article  PubMed  CAS  Google Scholar 

  • Kaiser P (1980) Pericentrische Inversionen menschlicher Chromosomen. Thieme, Stuttgart

    Google Scholar 

  • Kirkels VGHJ, Hustinx TWJ, Scheres JMJC (1980) Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter. Clin Genet 18: 456–461

    Article  PubMed  CAS  Google Scholar 

  • Koskull H von, Aula P (1974) Inherited (13;14) translocation and reproduction. Humangenetik 24: 85–91

    Google Scholar 

  • Mameli M, Cardia S, Milia A, et al (1978) A further case of a 22;22 Robertsonian translocation associated with recurrent abortions. Hum Genet 41: 359–361

    Article  PubMed  CAS  Google Scholar 

  • Mikelsaar A-V, Schmid M, Krone W, et al (1977) Frequency of Ag-stained nucleolus organizer regions in the acrocentric chromosomes of man. Hum Genet 37: 73–77

    Article  PubMed  CAS  Google Scholar 

  • Mikkelsen M (1971) Down’s syndrome. Current stage of cytogenetic research. Humangenetik 12: 1–28

    Article  PubMed  CAS  Google Scholar 

  • Mikkelsen M (1973) Non-random involvement of acrocentric chromosomes in human Robertsonian translocations. In: Wahrman J, Lewis KR (eds) Chromosomes today. Vol 4. Wiley, New York, pp 253–259

    Google Scholar 

  • Mikkelsen M, Bash A, Poulsen H (1980) Nucleolus organizer regions in translo-cations involving acrocentric chromosomes. Cytogenet Cell Genet 26: 14–21

    Article  PubMed  CAS  Google Scholar 

  • Miller OJ, Miller DA, Tantravahi R, et al (1978) Nucleolus organizer activity and the origin of Robertsonian translocations. Cytogenet Cell Genet 20: 40–50

    Article  PubMed  CAS  Google Scholar 

  • Niebuhr E (1972) Dicentric and monocentric Robertsonian translocations in man. Humangenetik 16: 217–226

    Article  PubMed  CAS  Google Scholar 

  • Nielsen J, Rasmussen K (1975) Extra marker chromosome in newborn children. Hereditas 81: 221–224

    Article  PubMed  CAS  Google Scholar 

  • Nielsen J, Rasmussen K (1976) Autosomal reciprocal translocations and 13/14 translocations: a population study. Clin Genet 10: 161–177

    Article  PubMed  CAS  Google Scholar 

  • Niikawa N, Ishikawa M (1983) Whole-arm translocation between homologous chromosomes 7 in a woman with successive spontaneous abortions. Hum Genet 63: 85–86

    Article  PubMed  CAS  Google Scholar 

  • Oksala T (1958) Chromosome pairing, crossing over, and segregation in meiosis in Drosophila melanogaster females. Cold Spring Harbor Symp Quant Biol 23: 197–210

    PubMed  CAS  Google Scholar 

  • Orye E, Delire C (1967) Familial D/D and D/G1 translocation. Helv Paediatr Acta 22: 36–40

    PubMed  CAS  Google Scholar 

  • Palmer CG, Conneally PM, Christian JC (1969) Translocations of D chromosomes in two families t(13q14q) and t(13q14q)+(13p14p). J Med Genet 6: 166173

    Google Scholar 

  • Palmer CG, Schwartz S, Hodes ME (1980) Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter. Clin Genet 17: 418–422

    Article  PubMed  CAS  Google Scholar 

  • Pérez-Castillo A, Abrisqueta JA (1978) Patau’s syndrome and 13g21q translocation. Hum Genet 42: 327–331

    Article  PubMed  Google Scholar 

  • Rockman-Greenberg C, Ray M, Evans JA, et al (1982) Homozygous Robertsonian translocations in a fetus with 44 chromosomes.Hum Genet 61: 181–184

    CAS  Google Scholar 

  • Schober AM, Fonatsch C (1978) Balanced reciprocal whole-arm translocationt(1:19) in three generations. Hum Genet 42: 349–352

    Article  PubMed  CAS  Google Scholar 

  • Schuh BE, Korf BR, Salwen MJ (1974) A 21/21 tandem translocation with satellites on both long and short arms. J Med Genet 11: 297–299

    Article  PubMed  CAS  Google Scholar 

  • Therman E (1980) Human chromosomes. Springer, New York

    Book  Google Scholar 

  • Verma RS, Dosik H (1980) Human chromosomal heteromorphisms: nature and clinical significance. Int Rev Cytol 62: 361–383

    Article  PubMed  CAS  Google Scholar 

  • Vianna-Morgante AM, Nunesmaia HG (1978) Dissociation as probable origin of mosaic 45,XX,t(15;21)/46,XY,i(21q). J Med Genet 15: 305–310

    Article  PubMed  CAS  Google Scholar 

  • Zhou H, Kang X, Zhang Q (1983) Homologous 14q 14q Robertsonian translocation in man. Chin Med J 96: 625–633

    PubMed  CAS  Google Scholar 

  • Žižka J, Balíéek P, Finkovâ A (1977) Translocation D/D involving two homologous chromosomes of the pair 15. Hum Genet 36: 123–125

    Article  PubMed  Google Scholar 

  • Zuffardi O, Tiepolo L (1982) Frequencies and types of chromosome abnormalities associated with human male infertility. In: Crosignani PG, Rubin BL (eds) Genetic control of gamete production and function. Academic, London, pp 261–273

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 1986 Springer-Verlag New York Inc.

About this chapter

Cite this chapter

Therman, E. (1986). Robertsonian Translocations. In: Human Chromosomes. Springer, New York, NY. https://doi.org/10.1007/978-1-4684-0269-8_24

Download citation

  • DOI: https://doi.org/10.1007/978-1-4684-0269-8_24

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-96173-6

  • Online ISBN: 978-1-4684-0269-8

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics