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. 1977 Dec;14(6):451–455. doi: 10.1136/jmg.14.6.451

Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation.

A J Hamers, C van Kempen
PMCID: PMC1013644  PMID: 604497

Abstract

A ring chromosome 8 was found in peripheral blood cells in a boy, whose chromosomes were studied because of multiple congenital anomalies. Examination of skin cells revealed a 46,XY/46,XY,8r pattern. Application of several banding techniques suggested a duplication of the most distal bands of both arms in the ring. The terminal end of 8q appeared to have been retained as could be shown by R-banding. The anaesthesia and surgery the mother underwent in the first month of her pregnancy is considered as a possible cause of the chromosome abnormality.

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Selected References

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  1. Fraisse J., Lauras B., Ooghe M. J., Freycon F., Rethoré M. O. A propos d'un cas de chromosome 9 en anneau. Indentification par dénaturation ménagée. Ann Genet. 1974 Sep;17(3):175–180. [PubMed] [Google Scholar]
  2. Fried K., Rosenblatt M., Mundel G., Krikler R. Mental retardation and congenital malformations associated with a ring chromosome 6. Clin Genet. 1975 Mar;7(3):192–196. doi: 10.1111/j.1399-0004.1975.tb00318.x. [DOI] [PubMed] [Google Scholar]
  3. Jacobsen P., Mikkelsen M., Rosleff F. A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl. Clin Genet. 1973;4(5):434–441. doi: 10.1111/j.1399-0004.1973.tb01173.x. [DOI] [PubMed] [Google Scholar]
  4. Kistenmacher M. L., Punnett H. H. Comparative behavior of ring chromosomes. Am J Hum Genet. 1970 May;22(3):304–318. [PMC free article] [PubMed] [Google Scholar]
  5. Kunze J., Stephan E., Tolksdorf M. Ring-Chromosom 18. Ein 18p-/18q- -Deletionssyndrom. Humangenetik. 1972;15(4):289–318. doi: 10.1007/BF00281730. [DOI] [PubMed] [Google Scholar]
  6. Lejeune J. De la duplication de structures circulaires. Ann Genet. 1968 Jun;11(2):71–77. [PubMed] [Google Scholar]
  7. Moore C. M., Heller R. H., Thomas G. H. Developmental abnormalities associated with a ring chromosome 6. J Med Genet. 1973 Sep;10(3):299–303. doi: 10.1136/jmg.10.3.299. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Nakajima S., Yanagisawa M., Kamoshita S., Nakagome Y. Mental retardation and congenital malformations associated with a ring chromosome 9. Hum Genet. 1976 Jun 29;32(3):289–293. doi: 10.1007/BF00295818. [DOI] [PubMed] [Google Scholar]
  9. Orye E., Craen M. A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p- chromosome constitution. Clin Genet. 1976 Mar;9(3):289–301. doi: 10.1111/j.1399-0004.1976.tb01577.x. [DOI] [PubMed] [Google Scholar]
  10. Pfeiffer R. A., Lenard H. G. Ringchromosom 8(46, XY, 8 r) bei einem debilen Jungen. Klin Padiatr. 1973 May;185(3):187–191. [PubMed] [Google Scholar]
  11. Taillemite L., Channarond J., Tinel H., Muliez N., Roux C. H. Délétion partielle du bras court du chromosome 8. Ann Genet. 1975 Dec;18(4):251–255. [PubMed] [Google Scholar]
  12. Van den Berghe H., Fryns J. P., Cassiman J. J., David G. Chromosome 6 en anneau. Caryotype 46,XY,r(6)-45,XY,-6. Ann Genet. 1974 Mar;17(1):29–35. [PubMed] [Google Scholar]
  13. Wurster-Hill D. H., Hoefnagel D. Banding identification of chromosomal abnormalities in four patients: ring (6), translocation (2q-;15q+), translocation (21q;21q) and deletion (22q-). J Ment Defic Res. 1975 Jun;19(2):145–150. doi: 10.1111/j.1365-2788.1975.tb01267.x. [DOI] [PubMed] [Google Scholar]
  14. Zackai E. H., Breg W. R. Ring chromosome 7 with variable phenotypic expression. Cytogenet Cell Genet. 1973;12(1):40–48. doi: 10.1159/000130436. [DOI] [PubMed] [Google Scholar]
  15. Zdansky R., Andrle M., Bühler E., Tsuchimoto T., Mayr W. R., Rett A. Irregular phenotypic expression of ring chromosomes. Humangenetik. 1975;26(3):193–198. doi: 10.1007/BF00281453. [DOI] [PubMed] [Google Scholar]

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