Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1967 Jun;4(2):117–123. doi: 10.1136/jmg.4.2.117

Ring chromosome 18 in a patient with multiple anomalies.

C G Palmer, N Fareed, A D Merritt
PMCID: PMC1468529  PMID: 5619991

Full text

PDF
117

Images in this article

119Fig. 1.
on p.119
119Fig. 2.
on p.119
119Fig. 3.
on p.119
120Fig. 4.
on p.120
120Fig. 5.
on p.120
120Fig. 6.
on p.120

Selected References

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

  1. ADAMS M. S. PALM-PRINTS AND A RING-D CHROMOSOME. Lancet. 1965 Sep 4;2(7410):494–495. doi: 10.1016/s0140-6736(65)91453-4. [DOI] [PubMed] [Google Scholar]
  2. Atkins L., Sceery R. T., Keenan M. E. An unstable ring chromosome in a female infant with hypotonia, seizures, and retarded development. J Med Genet. 1966 Jun;3(2):134–138. doi: 10.1136/jmg.3.2.134. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. BAIKIE A. G., BROWN W. M., JACOBS P. A., MILNE J. S. Chromosome studies in human leukaemia. Lancet. 1959 Sep 26;2(7100):425–428. doi: 10.1016/s0140-6736(59)90416-7. [DOI] [PubMed] [Google Scholar]
  4. BAIN A. D., GAULD I. K. Multiple congenital abnormalities associated with ring chromosome. Lancet. 1963 Aug 10;2(7302):304–305. doi: 10.1016/s0140-6736(63)90212-5. [DOI] [PubMed] [Google Scholar]
  5. BENDER M. A., GOOCH P. C. Persistent chromosome aberrations in irradiated human subjects. Radiat Res. 1962 Jan;16:44–53. [PubMed] [Google Scholar]
  6. BUCKTON K. E., JACOBS P. A., COURT BROWN W. M., DOLL R. A study of the chromosome damage persisting after x-ray therapy for ankylosing spondylitis. Lancet. 1962 Oct 6;2(7258):676–682. doi: 10.1016/s0140-6736(62)90500-7. [DOI] [PubMed] [Google Scholar]
  7. Bain A. D., Gauld I. K., Farquhar J. W. A ring X chromosome in dwarfism. Lancet. 1965 Apr 10;1(7389):820–820. doi: 10.1016/s0140-6736(65)92992-2. [DOI] [PubMed] [Google Scholar]
  8. Bishop A. M., Blank C. E., Simpson K., Dewhurst C. J. An XO-X ring X chromosome mosaicism in an individual with normal secondary sexual development. J Med Genet. 1966 Jun;3(2):129–133. doi: 10.1136/jmg.3.2.129. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Brown S. W., Hannah A. An Induced Maternal Effect on the Stability of the Ring-X-Chromosome of Drosophila Melanogaster. Proc Natl Acad Sci U S A. 1952 Aug;38(8):687–693. doi: 10.1073/pnas.38.8.687. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. DE GROUCHY J. CHROMOSOME 18: A TOPOLOGIC APPROACH. J Pediatr. 1965 Feb;66:414–431. doi: 10.1016/s0022-3476(65)80198-6. [DOI] [PubMed] [Google Scholar]
  11. DIGRADO F., MENDES F. T., SCHROEDER E. RING CHROMOSOME IN A CASE OF DI GUGLIELMO SYNDROME. Lancet. 1964 Dec 5;2(7371):1243–1244. doi: 10.1016/s0140-6736(64)91084-0. [DOI] [PubMed] [Google Scholar]
  12. FISHER G. W. RING CHROMOSOME MOSAICISM IN A SEVERELY SUBNORMAL CHILD WITH MULTIPLE CONGENITAL MALFORMATIONS. J Ment Defic Res. 1965 Mar;9:39–50. doi: 10.1111/j.1365-2788.1965.tb00819.x. [DOI] [PubMed] [Google Scholar]
  13. GORDON R. R., COOKE P. RING-1 CHROMOSOME AND MICROCEPHALIC DWARFISM. Lancet. 1964 Dec 5;2(7371):1212–1213. doi: 10.1016/s0140-6736(64)91045-1. [DOI] [PubMed] [Google Scholar]
  14. GROPP A., JUSSEN A., OFTERINGER K. MULTIPLE CONGENITAL ANOMALIES ASSOCIATED WITH A PARTIALLY RING-SHAPED CHROMOSOME PROBABLY DERIVED FROM CHROMOSOME NO. 18 IN MAN. Nature. 1964 May 23;202:829–830. doi: 10.1038/202829a0. [DOI] [PubMed] [Google Scholar]
  15. HUSTINX T. W., STOELINGA G. B. A RING-X-CHROMOSOME IN PART OF THE SOMATIC CELLS OF A PATIENT WITH SOME CHARACTERISTICS OF THE TURNER SYNDROME. Genetica. 1964;35:1–14. doi: 10.1007/BF01804870. [DOI] [PubMed] [Google Scholar]
  16. LUCAS M., KEMP N. H., ELLIS J. R., MARSHALL R. A SMALL AUTOSOMAL RING CHROMOSOME IN A FEMALE INFANT WITH CONGENITAL MALFORMATIONS. Ann Hum Genet. 1963 Nov;27:189–195. doi: 10.1111/j.1469-1809.1963.tb00212.x. [DOI] [PubMed] [Google Scholar]
  17. Lejeune J., Berger R., Lafourcade J., Réthoré M. O. La délétion partielle du bras long du chromosome 18. Individualisation d'un nouvel état morbide. Ann Genet. 1966;9(1):32–38. [PubMed] [Google Scholar]
  18. 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]
  19. McClintock B. A Correlation of Ring-Shaped Chromosomes with Variegation in Zea Mays. Proc Natl Acad Sci U S A. 1932 Dec;18(12):677–681. doi: 10.1073/pnas.18.12.677. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Morgan L V. A Closed X Chromosome in Drosophila Melanogaster. Genetics. 1933 May;18(3):250–283. doi: 10.1093/genetics/18.3.250. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Mukerjee D., Burdette W. J. Multiple congenital anomalies associated with a ring 3 chromosome and translocated 3/X chromosome. Nature. 1966 Oct 8;212(5058):153–155. doi: 10.1038/212153a0. [DOI] [PubMed] [Google Scholar]
  22. Nitowsky H. M., Sindhvananda N., Konigsberg U. R., Weinberg T. Partial 18 monosomy in the cyclops malformation. Pediatrics. 1966 Feb;37(2):260–269. [PubMed] [Google Scholar]
  23. PFEIFFER R. A., BUECHNER T. ABSENCE OF LATE REPLICATION OF A HUMAN X-RING CHROMOSOME. Nature. 1964 Nov 21;204:804–805. doi: 10.1038/204804b0. [DOI] [PubMed] [Google Scholar]
  24. Palmer C. G., Funderburk S. Secondary constrictions in human chromosomes. Cytogenetics. 1965;4(4):261–276. doi: 10.1159/000129863. [DOI] [PubMed] [Google Scholar]
  25. Paolini P., Berger R., Rethoré M. O., Lafourcade J., Lejeune J. Sur un cas de chromosome X en anneau. Ann Genet. 1966 Jun;9(2):78–79. [PubMed] [Google Scholar]
  26. REISMAN L. E., DARNELL A., MURPHY J. W. ABNORMALITIES WITH RING CHROMOSOME. Lancet. 1965 Aug 28;2(7409):445–445. doi: 10.1016/s0140-6736(65)90802-0. [DOI] [PubMed] [Google Scholar]
  27. Rohde R. A., Tompkins R. "Cri du Chat" due to a ring-B chromosome. Lancet. 1965 Nov 20;2(7421):1075–1076. doi: 10.1016/s0140-6736(65)90609-4. [DOI] [PubMed] [Google Scholar]
  28. SANDBERG A. A., ISHIHARA T., CROSSWHITE L. H., HAUSCHKA T. S. Chromosomal dichotomy in blood and marrow of acute leukemia. Cancer Res. 1962 Jul;22:748–756. [PubMed] [Google Scholar]
  29. Sandler L. The meiotic mechanics of ring chromosomes in female Drosophila melanogaster. Natl Cancer Inst Monogr. 1965 Dec;18:243–273. [PubMed] [Google Scholar]
  30. TOUGH I. M., BUCKTON K. E., BAIKIE A. G., COURT-BROWN W. M. X-ray-induced chromosome damage in man. Lancet. 1960 Oct 15;2(7155):849–851. doi: 10.1016/s0140-6736(60)91911-5. [DOI] [PubMed] [Google Scholar]
  31. WANG H. C., MELNYK J., McDONALD L. T., UCHIDA I. A., CARR D. H., GOLDBERG B. Ring chromosomes in human beings. Nature. 1962 Aug 18;195:733–734. doi: 10.1038/195733a0. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES