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. 1993 Nov;30(11):964–965. doi: 10.1136/jmg.30.11.964

Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.

J Jenderny 1, A Caliebe 1, C Beyer 1, W Grote 1
PMCID: PMC1016610  PMID: 8301656

Abstract

A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her clinical features were similar to previous cases of ring chromosome 18 syndrome. The ring chromosome was inherited from the phenotypically and mentally normal mother with a mos 46,XX/47,XX, + r(18) karyotype.

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Selected References

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  1. Benito E., Serrano A., Moreno F., Espinosa J., Dávila M. J., Cardesa J. J., Galán E., Rubio J., Zarallo L. Cromosoma 18 en anillo 46,XY,r(18). An Esp Pediatr. 1987 Feb;26(2):121–123. [PubMed] [Google Scholar]
  2. Beratis N. G., Kardon N. B., Hsu L. Y., Grossman D., Hirschhorn K. Parental mosaicism in trisomy 18. Pediatrics. 1972 Dec;50(6):908–911. [PubMed] [Google Scholar]
  3. Callen D. F., Eyre H. J., Ringenbergs M. L., Freemantle C. J., Woodroffe P., Haan E. A. Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics. Am J Hum Genet. 1991 Apr;48(4):769–782. [PMC free article] [PubMed] [Google Scholar]
  4. Christensen K. R., Friedrich U., Jacobsen P., Jensen K., Nielsen J., Tsuboi T. Ring chromosome 18 in mother and daughter. J Ment Defic Res. 1970 Mar;14(1):49–67. doi: 10.1111/j.1365-2788.1970.tb01099.x. [DOI] [PubMed] [Google Scholar]
  5. Dagna Bricarelli F., Pierluigi M., Grasso M., Strigini P., Perroni L. Origin of extra chromosome 21 in 343 families: cytogenetic and molecular approaches. Am J Med Genet Suppl. 1990;7:129–132. doi: 10.1002/ajmg.1320370726. [DOI] [PubMed] [Google Scholar]
  6. Donlan M. A., Dolan C. R. Ring chromosome 18 in a mother and son. Am J Med Genet. 1986 May;24(1):171–174. doi: 10.1002/ajmg.1320240121. [DOI] [PubMed] [Google Scholar]
  7. Faugeras C., Barthe D. Transmission d'un chromosome 18 en anneau sur deux générations, chez des sujets à phénotype normal. J Genet Hum. 1986 Aug;34(3-4):313–320. [PubMed] [Google Scholar]
  8. Fryns J. P., Kleczkowska A., Smeets E., Van Den Berghe H. Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son. Ann Genet. 1992;35(2):121–123. [PubMed] [Google Scholar]
  9. Gersdorf E., Utermann B., Utermann G. Trisomy 18 mosaicism in an adult woman with normal intelligence and history of miscarriage. Hum Genet. 1990 Feb;84(3):298–299. doi: 10.1007/BF00200581. [DOI] [PubMed] [Google Scholar]
  10. Graham D. A., Jewitt M. M., Fitzgerald P. H. Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence. Clin Genet. 1992 Jan;41(1):36–38. doi: 10.1111/j.1399-0004.1992.tb03626.x. [DOI] [PubMed] [Google Scholar]
  11. Kohn G., Shohat M. Trisomy 18 mosaicism in an adult with normal intelligence. Am J Med Genet. 1987 Apr;26(4):929–931. doi: 10.1002/ajmg.1320260423. [DOI] [PubMed] [Google Scholar]
  12. Niikawa N., Kajii T. The origin of mosaic Down syndrome: four cases with chromosome markers. Am J Hum Genet. 1984 Jan;36(1):123–130. [PMC free article] [PubMed] [Google Scholar]
  13. Stock C., Ambros I. M., Mann G., Gadner H., Amann G., Ambros P. F. Detection of Ip36 deletions in paraffin sections of neuroblastoma tissues. Genes Chromosomes Cancer. 1993 Jan;6(1):1–9. doi: 10.1002/gcc.2870060103. [DOI] [PubMed] [Google Scholar]

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