Europe PMC

This website requires cookies, and the limited processing of your personal data in order to function. By using the site you are agreeing to this as outlined in our privacy notice and cookie policy.

Mutation rates of structural chromosome rearrangements in man.

American Journal of Human Genetics, 01 Jan 1981, 33(1):44-54
PMID: 7468593 PMCID: PMC1684876

Free full text in Europe PMC

Abstract 

The gametic mutation rates of human structural chromosome rearrangements have been estimated from rearrangements ascertained from systematic surveys of live births and spontaneous abortions. The mutation rates for rearrangements that survive long enough to give rise to clinically recognized pregnancies are 2.20 X 10(-4) for balanced rearrangements, 3.54 X 10(-4) for unbalanced Robertsonian translocations, and 3.42 X 10(-4) for unbalanced non-Robertsonian rearrangements. These estimates give a mutation rate for all detectable structural chromosome rearrangements of approximately 1 X 10(-3). The most common single rearrangement, the Robertsonian translocation involving chromosomes 13 and 14, has a mutation rate of 1.5 X 10(-4).

Free full text 

Logo of ajhgGuide for AuthorsAbout this journalExplore this journalAmerican Journal of Human Genetics
Am J Hum Genet. 1981 Jan; 33(1): 44–54.
PMCID: PMC1684876
PMID: 7468593

Mutation rates of structural chromosome rearrangements in man.

P A Jacobs
Copyright and License information Disclaimer

Abstract

The gametic mutation rates of human structural chromosome rearrangements have been estimated from rearrangements ascertained from systematic surveys of live births and spontaneous abortions. The mutation rates for rearrangements that survive long enough to give rise to clinically recognized pregnancies are 2.20 X 10(-4) for balanced rearrangements, 3.54 X 10(-4) for unbalanced Robertsonian translocations, and 3.42 X 10(-4) for unbalanced non-Robertsonian rearrangements. These estimates give a mutation rate for all detectable structural chromosome rearrangements of approximately 1 X 10(-3). The most common single rearrangement, the Robertsonian translocation involving chromosomes 13 and 14, has a mutation rate of 1.5 X 10(-4).

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (752K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.
 
icon of scanned page 44
44
icon of scanned page 45
45
icon of scanned page 46
46
icon of scanned page 47
47
icon of scanned page 48
48
icon of scanned page 49
49
icon of scanned page 50
50
icon of scanned page 51
51
icon of scanned page 52
52
icon of scanned page 53
53
icon of scanned page 54
54
 

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Boué J, Bou A, Lazar P. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology. 1975 Aug;12(1):11–26. [Abstract] [Google Scholar]
  • Kajii T, Ferrier A. Cytogenetics of aborters and abortuses. Am J Obstet Gynecol. 1978 May 1;131(1):33–38. [Abstract] [Google Scholar]
  • Creasy MR, Crolla JA, Alberman ED. A cytogenetic study of human spontaneous abortions using banding techniques. Hum Genet. 1976 Feb 29;31(2):177–196. [Abstract] [Google Scholar]
  • Hassold TJ, Matsuyama A, Newlands IM, Matsuura JS, Jacobs PA, Manuel B, Tsuei J. A cytogenetic study of spontaneous abortions in Hawaii. Ann Hum Genet. 1978 May;41(4):443–454. [Abstract] [Google Scholar]
  • Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet. 1974 May;37(4):359–376. [Abstract] [Google Scholar]
  • Nielsen J, Sillesen I. Incidence of chromosome aberrations among 11148 newborn children. Humangenetik. 1975 Oct 20;30(1):1–12. [Abstract] [Google Scholar]
  • Sergovich F, Valentine GH, Chen AT, Kinch RA, Smout MS. Chromosome aberrations in 2159 consecutive newborn babies. N Engl J Med. 1969 Apr 17;280(16):851–855. [Abstract] [Google Scholar]
  • Hamerton JL, Canning N, Ray M, Smith S. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet. 1975 Oct;8(4):223–243. [Abstract] [Google Scholar]
  • Bochkov NP, Kuleshov NP, Chebotarev AN, Alekhin VI, Midian SA. Population cytogenetic investigation of newborns in Moscow. Humangenetik. 1974 May 17;22(2):139–152. [Abstract] [Google Scholar]
  • WARBURTON D, FRASER FC. SPONTANEOUS ABORTION RISKS IN MAN: DATA FROM REPRODUCTIVE HISTORIES COLLECTED IN A MEDICAL GENETICS UNIT. Am J Hum Genet. 1964 Mar;16:1–25. [Europe PMC free article] [Abstract] [Google Scholar]
  • Dutrillaux B, Lejeune J. Etude de la descendance des individus porteurs d'une translocation t(DqDq) Ann Genet. 1970 Mar;13(1):11–18. [Abstract] [Google Scholar]
  • Jacobs PA, Frackiewicz A, Law P. Incidence and mutation rates of structural rearrangements of the autosomes in man. Ann Hum Genet. 1972 Mar;35(3):301–319. [Abstract] [Google Scholar]
  • BIERMAN JM, SIEGEL E, FRENCH FE, SIMONIAN K. ANALYSIS OF THE OUTCOME OF ALL PREGNANCIES IN A COMMUNITY.KAUAI PREGNANCY STUDY. Am J Obstet Gynecol. 1965 Jan 1;91:37–45. [Abstract] [Google Scholar]
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

Citations & impact 

Impact metrics

75
Citations
Jump to Citations

Citations of article over time

Article citations

Go to all (75) article citations

Similar Articles 

To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation.

Funding 

Funders who supported this work.

NICHD NIH HHS (1)