SpringerLink
Log in

Introduction

  • Chapter
  • First Online:
Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

  • 785 Accesses

Abstract

As stated in the Atlas of Human Chromosome Heteromorphisms [1], “The cornerstone of genetics is variation.” In the Atlas, the emphasis was on variation in the human genome that could be seen, pushing the applications of standard light and fluorescence microscopy to their limits.

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

Access this chapter

Log in via an institution

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 249.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free ship** worldwide - see info
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free ship** worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Wyandt HE, Tonk VS (eds) (2004) Atlas of human chromosome heteromorphisms. Kluwer, Dordrecht

    Google Scholar 

  2. Pennisi E (2007) Breakthrough of the year: human genetic variation. Science 318:1842–1843

    Article  CAS  PubMed  Google Scholar 

  3. Hsu TC, Pomerat CM (1953) Mammalian chromosomes in vitro II: a method for spreading the chromosomes of cells in tissue culture. J Hered 44:23–29

    Article  Google Scholar 

  4. Foucault M (1994) The birth of the clinic: an archaeology of medical perception. Vintage Books, New York, pp xii

    Google Scholar 

  5. Online Mendelian Inheritance in Man. www.omim.org. Accessed 6 Jan 2016

  6. Holliday R (1990) DNA methylation and epigenetic inheritance. Philosoph Trans Royal Soc London 326B(1235):329–338

    Article  Google Scholar 

  7. Isotalo PA, Wells GA, Donnelly JG (2000) Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations. Am J Hum Genet 67:986–990

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Rowley JD (1973) A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 243:290–293

    Article  CAS  PubMed  Google Scholar 

  9. Tonk V et al (2011) Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is less. Am J Med Genet 155A:1437–1441

    Article  PubMed  Google Scholar 

  10. Shuan-Yow L et al (1998) Familial dup(5)(q15q21) associated with normal and abnormal phenotypes. Am J Med Genet 75:75–77

    Google Scholar 

  11. Available through the UC Santa Clara genome browser. http://genome.ucsc.edu/; detailed web resources for interpreting genomic testing will be provided in Chaps. 9 and 10

  12. Olson SB, Magenis RE (2004) Technical variables and the use of heteromorphisms in the study of human chromosomes. In: Wyandt HE, Tonk VS (eds) Atlas of human chromosome heteromorphisms. Kluwer, Dordrecht, pp 63–73

    Chapter  Google Scholar 

  13. 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 38:235–252

    CAS  PubMed  PubMed Central  Google Scholar 

  14. Robinson JA (1973) Origin of extra chromosome in trisomy 21. Lancet 1:131–133

    Article  CAS  PubMed  Google Scholar 

  15. Schmidt R, Dar H, Nitowsky HM (1975) Origin of extra 21 chromosome in patients with Down syndrome. Ped Res 9:367a

    Google Scholar 

  16. Wagenbichler P (1976) Origin of the supernumerary chromosome in Down’s syndrome. In: ICS 397. V International congress human genetics, Chicago, Excerpta Medica, p 167a

    Google Scholar 

  17. Magenis RE et al (1977) Parental origin of the extra chromosome in Down’s syndrome. Hum Genet 37:7–16

    Article  CAS  PubMed  Google Scholar 

  18. Mikkelsen M et al (1980) Non-disjunction in trisomy 21: study of chromosomal heteromorphisms in 110 families. Ann Hum Genet 44:17–28

    Article  CAS  PubMed  Google Scholar 

  19. Magenis RE, Chamberlin J (1981) Parental origin of nondisjunction. In: De la Cruz FF, GeraldPS (eds) Trisomy 21 (Down Syndrome): research perspectives. University Press, Baltimore

    Google Scholar 

  20. Jonasson J et al (1972) Origin of triploidy in human abortuses. Hereditas 71:168–171

    Article  CAS  PubMed  Google Scholar 

  21. Kajii T, Niikawa N (1977) Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers. Cytogenet Cell Genet 18:109–125

    Article  CAS  PubMed  Google Scholar 

  22. Jacobs PA et al (1978) The origin of human triploids. Ann Hum Genet 42:49–57

    Article  CAS  PubMed  Google Scholar 

  23. Lauritsen JG et al (1979) Origin of triploidy in spontaneous abortuses. Ann Hum Genet 43:1–5

    Article  CAS  PubMed  Google Scholar 

  24. Olson SB, Magenis RE (1988) Preferential paternal origin of de novo structural chromosome rearrangements. In: Daniel A (ed) The cytogenetics of mammalian autosomal rearrangements. Alan Liss, New York, pp 583–599

    Google Scholar 

  25. Butler MG, Palmer CG (1983) Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet 1:1285–1286

    Article  CAS  PubMed  Google Scholar 

  26. Magenis RE 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 35:333–349

    Article  CAS  PubMed  Google Scholar 

  27. Maraschio P et al (1981) Preferential maternal derivation in inv dup(15): analysis of eight new cases. Hum Genet 57:345–350

    Article  CAS  PubMed  Google Scholar 

  28. Linder D, McCaw BK, Hecht F (1975) Parthenogenic origin of benign ovarian teratomas. N Engl J Med 292:63–66

    Article  CAS  PubMed  Google Scholar 

  29. Kajii T, Ohama K (1977) Androgenetic origin of hydatidiform mole. Nature 268:633–634

    Article  CAS  PubMed  Google Scholar 

  30. Knoll JHM et al (1989) Angelman and Prader-Willi syndromes share a common chromosome deletion but differ in parental origin of the deletion. Am J Med Genet 32:285–290

    Article  CAS  PubMed  Google Scholar 

  31. Nicholls RDl (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

    Google Scholar 

  32. Levi B, Warburton P (2004) Molecular dissection of heteromorphic regions. In: Wyandt HE Tonk VS (eds) Atlas of human chromosome heteromorphisms. Kluwer, Dordrecht

    Google Scholar 

  33. Jalal SM, Ketterling RP (2004) Euchromatic variants. In: Wyandt HE, Tonk VS (eds) Atlas of human chromosome heteromorphisms. Kluwer, Dordrecht

    Google Scholar 

  34. Vogel F, Motulsky AG (1982) Human genetics. Springer, Berlin, p 373

    Google Scholar 

  35. Nussbaum RL, McInnes RR, Willard HF (2007) Thompson and Thompson genetics in medicine. Saunders-Elsevier, Philadelphia

    Google Scholar 

  36. South ST et al (2013) ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med 15:901–909

    Article  CAS  PubMed  Google Scholar 

  37. Hap Map Consortium (2010) Integrating common and rare genetic variation in diverse human populations. Nature 467:51–58. See the HapMap home page at http://hapmap.ncbi.nlm.nih.gov/

  38. See http://www.omim.org/statistics/entry for these figures, and go to www.omim.org to search on disorders or genes associated with probable or suspected Mendelian inheritance

  39. Ng PC et al (2008) Genetic variation in an individual human exome. PLOS Genet 4(8):e1000160. doi:10.1371/journal.pgen.1000160

Download references

Author information

Authors and Affiliations

  1. Genesys Diagnostics, Inc., Oakdale, CT, USA

    Herman E. Wyandt

  2. Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock, TX, USA

    Golder N. Wilson

  3. Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock, TX, USA

    Vijay S. Tonk

Authors
  1. Herman E. Wyandt
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Golder N. Wilson
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Vijay S. Tonk
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Herman E. Wyandt .

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer Nature Singapore Pte Ltd.

About this chapter

Cite this chapter

Wyandt, H.E., Wilson, G.N., Tonk, V.S. (2017). Introduction. In: Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis. Springer, Singapore. https://doi.org/10.1007/978-981-10-3035-2_1

Download citation

Publish with us

Policies and ethics

Search

Navigation