Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1989 May;44(5):631–638.

The role of cytologic NOR variants in the etiology of trisomy 21.

N B Spinner 1, D L Eunpu 1, R D Schmickel 1, E H Zackai 1, D McEldrew 1, G R Bunin 1, H McDermid 1, B S Emanuel 1
PMCID: PMC1715650  PMID: 2523191

Abstract

Silver-stained chromosomes from 29 couples with a trisomy 21 offspring and from 25 control couples were studied to determine whether there was an association of nucleolar-organizing-region variants in parents of children with trisomy 21. A reproducible scoring system for the analysis of silver-stained chromosomes was developed, and this was applied to the analysis of study participants in a blinded fashion. Seven of the 58 parents of children with trisomy 21 and seven of the 50 control parents were found to have variant NORs on silver staining. Therefore, we do not find a demonstrable risk for nondisjunction of chromosome 21 in individuals with silver-staining variants.

Full text

PDF

Images in this article

633Figure 1
on p.633
634Figure 2
on p.634
635Figure 3
on p.635

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alfi O. S., Chang R., Azen S. P. Evidence for genetic control of nondisjunction in man. Am J Hum Genet. 1980 Jul;32(4):477–483. [PMC free article] [PubMed] [Google Scholar]
  2. Archidiacono N., de Capoa A., Ferraro M., Pelliccia F., Rocchi A., Rocchi M. Nucleolus organizer and N-band distribution in morphologic and fluorescence variants of human chromosomes. Hum Genet. 1977 Jul 26;37(3):285–289. doi: 10.1007/BF00393610. [DOI] [PubMed] [Google Scholar]
  3. Bernstein R., Dawson B., Griffiths J. Human inherited marker chromosome 22 short-arm enlargement: investigation of rDNA gene multiplicity, Ag-band size, and acrocentric association. Hum Genet. 1981;58(2):135–139. doi: 10.1007/BF00278697. [DOI] [PubMed] [Google Scholar]
  4. Brown W. M., Jacobs P. A., Brunton M. Chromosome studies on randomly chosen men and women. Lancet. 1965 Sep 18;2(7412):561–562. doi: 10.1016/s0140-6736(65)90867-6. [DOI] [PubMed] [Google Scholar]
  5. DEKABAN A. S., BENDER M. A., ECONOMOS G. E. CHROMOSOME STUDIES IN MONGOLOIDS AND THEIR FAMILIES. Cytogenetics. 1963;2:61–75. doi: 10.1159/000129768. [DOI] [PubMed] [Google Scholar]
  6. Feinberg A. P., Vogelstein B. "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum. Anal Biochem. 1984 Feb;137(1):266–267. doi: 10.1016/0003-2697(84)90381-6. [DOI] [PubMed] [Google Scholar]
  7. Gigliani F., De Capoa A., Rocchi A. A marker chromosome number 14 with double satellite obseved in two generations: an unbalanced chromosome constitution associated with normal phenotype. Humangenetik. 1972;15(2):191–195. doi: 10.1007/BF00295748. [DOI] [PubMed] [Google Scholar]
  8. Goodpasture C., Bloom S. E. Visualization of nucleolar organizer regions im mammalian chromosomes using silver staining. Chromosoma. 1975 Nov 20;53(1):37–50. doi: 10.1007/BF00329389. [DOI] [PubMed] [Google Scholar]
  9. HAMERTON J. L., GIANNELLI F., POLANI P. E. CYTOGENETICS OF DOWN'S SYNDROME (MONGOLISM). I. DATA ON A CONSECUTIVE SERIES OF PATIENTS REFERRED FOR GENETIC COUNSELLING AND DIAGNOSIS. Cytogenetics. 1965;4:171–185. doi: 10.1159/000129853. [DOI] [PubMed] [Google Scholar]
  10. Hamerton J. L., 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. doi: 10.1111/j.1399-0004.1975.tb01498.x. [DOI] [PubMed] [Google Scholar]
  11. Hassold T., Jacobs P. A., Pettay D. Analysis of nucleolar organizing regions in parents of trisomic spontaneous abortions. Hum Genet. 1987 Aug;76(4):381–384. doi: 10.1007/BF00272449. [DOI] [PubMed] [Google Scholar]
  12. Howell W. M., Black D. A. A rapid technique for producing silver-stained nucleolus organizer regions and trypsin-giemsa bands on human chromosomes. Hum Genet. 1978 Jul 12;43(1):53–56. doi: 10.1007/BF00396478. [DOI] [PubMed] [Google Scholar]
  13. Jackson-Cook C. K., Flannery D. B., Corey L. A., Nance W. E., Brown J. A. Nucleolar organizer region variants as a risk factor for Down syndrome. Am J Hum Genet. 1985 Nov;37(6):1049–1061. [PMC free article] [PubMed] [Google Scholar]
  14. MOORHEAD P. S., NOWELL P. C., MELLMAN W. J., BATTIPS D. M., HUNGERFORD D. A. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res. 1960 Sep;20:613–616. doi: 10.1016/0014-4827(60)90138-5. [DOI] [PubMed] [Google Scholar]
  15. Miller D. A., Dev V. G., Tantravahi R., Miller O. J. Suppression of human nucleolus organizer activity in mouse-human somatic hybrid cells. Exp Cell Res. 1976 Sep;101(2):235–243. doi: 10.1016/0014-4827(76)90373-6. [DOI] [PubMed] [Google Scholar]
  16. POLANI P. E., BRIGGS J. H., FORD C. E., CLARKE C. M., BERG J. M. A Mongol girl with 46 chromosomes. Lancet. 1960 Apr 2;1(7127):721–724. doi: 10.1016/s0140-6736(60)90614-0. [DOI] [PubMed] [Google Scholar]
  17. Richards B. W. The recurrence of monogolism in sibships. J Ment Defic Res. 1977 Mar;21(1):5–23. doi: 10.1111/j.1365-2788.1977.tb00021.x. [DOI] [PubMed] [Google Scholar]
  18. Sands V. E. Short arm enlargement in acrocentric chromosomes. Am J Hum Genet. 1969 May;21(3):293–304. [PMC free article] [PubMed] [Google Scholar]
  19. Schmickel R. D., Gonzalez I. L., Erickson J. M. Nucleolus organizing genes on chromosome 21: recombination and nondisjunction. Ann N Y Acad Sci. 1985;450:121–131. doi: 10.1111/j.1749-6632.1985.tb21488.x. [DOI] [PubMed] [Google Scholar]
  20. Schmickel R. D., Knoller M. Characterization and localization of the human genes for ribosomal ribonucleic acid. Pediatr Res. 1977 Aug;11(8):929–935. doi: 10.1203/00006450-197708000-00015. [DOI] [PubMed] [Google Scholar]
  21. Schmickel R. D. Quantitation of human ribosomal DNA: hybridization of human DNA with ribosomal RNA for quantitation and fractionation. Pediatr Res. 1973 Jan;7(1):5–12. doi: 10.1203/00006450-197301000-00002. [DOI] [PubMed] [Google Scholar]
  22. Starkman M. N., Shaw M. W. Atypical acrocentric chromosomes in Negro and Caucasian Mongols. Am J Hum Genet. 1967 Mar;19(2):162–173. [PMC free article] [PubMed] [Google Scholar]
  23. Tjio J. H., Puck T. T., Robinson A. THE HUMAN CHROMOSOMAL SATELLITES IN NORMAL PERSONS AND IN TWO PATIENTS WITH MARFAN'S SYNDROME. Proc Natl Acad Sci U S A. 1960 Apr;46(4):532–539. doi: 10.1073/pnas.46.4.532. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES