Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1995 Dec;32(12):991–993. doi: 10.1136/jmg.32.12.991

Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques.

M B Qumsiyeh 1, A Tomasi 1, M Taslimi 1
PMCID: PMC1051786  PMID: 8825933

Abstract

A patient was referred for amniocentesis because of advanced maternal age and polyhydramnios. The fetal karyotype was a mosaic 46,XX,del(18)(p11.1)/46,XX,-18,+i(18q)de novo. The deletion appeared to encompass the whole short arm as evidenced by G banding and in situ hybridisation. However, telomere sequences were found on both ends of the deleted chromosome as well as the isochromosome. The normal 18 and the isochromosome showed more alphoid sequences than the del(18). Subsequent passages of the cell lines showed an increase in the frequency of the isochromosome from 20% to about 30%. Possible mechanisms are discussed.

Full text

PDF
991

Images in this article

992Image
on p.992
992Image
on p.992

Selected References

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

  1. Abeliovich D., Dagan J., Levy A., Steinberg A., Zlotogora J. Isochromosome 18p in a mother and her child. Am J Med Genet. 1993 Jun 1;46(4):392–393. doi: 10.1002/ajmg.1320460409. [DOI] [PubMed] [Google Scholar]
  2. Alitalo T., Willard H. F., de la Chapelle A. Determination of the breakpoints of 1;7 translocations in myelodysplastic syndrome by in situ hybridization using chromosome-specific alpha satellite DNA from human chromosomes 1 and 7. Cytogenet Cell Genet. 1989;50(1):49–53. doi: 10.1159/000132718. [DOI] [PubMed] [Google Scholar]
  3. Andersen L. B., Tommerup N., Koch J. Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis. Cytogenet Cell Genet. 1990;53(4):206–210. doi: 10.1159/000132931. [DOI] [PubMed] [Google Scholar]
  4. Callen D. F., Freemantle C. J., Ringenbergs M. L., Baker E., Eyre H. J., Romain D., Haan E. A. The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. Am J Hum Genet. 1990 Sep;47(3):493–498. [PMC free article] [PubMed] [Google Scholar]
  5. Callen D. F., Mulley J. C., Baker E. G., Sutherland G. R. Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences. Hum Genet. 1987 Nov;77(3):236–240. doi: 10.1007/BF00284476. [DOI] [PubMed] [Google Scholar]
  6. Cantú E. S., Khan T. A., Pai G. S. Fluorescence in situ hybridization (FISH) of a whole-arm translocation involving chromosomes 18 and 20 with alpha-satellite DNA probes: detection of a centromeric DNA break? Am J Med Genet. 1992 Oct 1;44(3):340–344. doi: 10.1002/ajmg.1320440314. [DOI] [PubMed] [Google Scholar]
  7. Fryns J. P., Kleczkowska A., Jaeken J., Van Herck K., Van den Berghe M. H. Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example. Ann Genet. 1989;32(3):177–179. [PubMed] [Google Scholar]
  8. Gosden C., Nicolaides K. H., Rodeck C. H. Fetal blood sampling in investigation of chromosome mosaicism in amniotic fluid cell culture. Lancet. 1988 Mar 19;1(8586):613–617. doi: 10.1016/s0140-6736(88)91415-8. [DOI] [PubMed] [Google Scholar]
  9. Lorda-Sanchez I., Binkert F., Maechler M., Schinzel A. A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation. Am J Hum Genet. 1991 Nov;49(5):1034–1040. [PMC free article] [PubMed] [Google Scholar]
  10. Müller H., Bühler E. M., Signer E., Egli F., Stalder G. R. Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography. J Med Genet. 1972 Dec;9(4):462–467. doi: 10.1136/jmg.9.4.462. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Pettigrew A. L., McCabe E. R., Elder F. F., Ledbetter D. H. Isodicentric X chromosome in a patient with Turner syndrome--implications for localization of the X-inactivation center. Hum Genet. 1991 Aug;87(4):498–502. doi: 10.1007/BF00197176. [DOI] [PubMed] [Google Scholar]
  12. Pinkel D., Landegent J., Collins C., Fuscoe J., Segraves R., Lucas J., Gray J. Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci U S A. 1988 Dec;85(23):9138–9142. doi: 10.1073/pnas.85.23.9138. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Pinkel D., Straume T., Gray J. W. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A. 1986 May;83(9):2934–2938. doi: 10.1073/pnas.83.9.2934. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Razavi-Encha F., Raoul O., Lescs M. C., Danan C. Phenotype-karyotype correlations in dup(18q): report of a case and review. Am J Med Genet. 1985 Jul;21(3):591–595. doi: 10.1002/ajmg.1320210321. [DOI] [PubMed] [Google Scholar]
  15. Reynolds J. F., Daniel A., Kelly T. E., Gollin S. M., Stephan M. J., Carey J., Adkins W. N., Webb M. J., Char F., Jimenez J. F. Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. Am J Med Genet. 1987 Jun;27(2):257–274. doi: 10.1002/ajmg.1320270204. [DOI] [PubMed] [Google Scholar]
  16. Schinzel A. Isochromosome formation and subsequent fission or short arm deletion and subsequent isochromosome formation? Ann Genet. 1990;33(1):60–60. [PubMed] [Google Scholar]
  17. Spinner N. B., Eunpu D. L., Austria J. R., Mamunes P. Holoprosencephaly in a newborn girl with 46,XX,i(18q). Am J Med Genet. 1991 Apr 1;39(1):11–12. doi: 10.1002/ajmg.1320390104. [DOI] [PubMed] [Google Scholar]
  18. Tharapel A. T., Qumsiyeh M. B., Martens P. R., Tharapel S. A., Dalton J. D., Ward J. C., Wilroy R. S., Jr Identification of the origin of centromeres in whole-arm translocations using fluorescent in situ hybridization with alpha-satellite DNA probes. Am J Med Genet. 1991 Jul 1;40(1):117–120. doi: 10.1002/ajmg.1320400125. [DOI] [PubMed] [Google Scholar]
  19. Tümer Z., Berg A., Mikkelsen M. Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric alpha-satellite sequences. Hum Genet. 1995 Mar;95(3):299–302. doi: 10.1007/BF00225197. [DOI] [PubMed] [Google Scholar]
  20. Vorsanova S. G., Yurov Y. B., Alexandrov I. A., Demidova I. A., Mitkevich S. P., Tirskaia A. F. 18p- syndrome: an unusual case and diagnosis by in situ hybridization with chromosome 18-specific alphoid DNA sequence. Hum Genet. 1986 Feb;72(2):185–187. doi: 10.1007/BF00283945. [DOI] [PubMed] [Google Scholar]
  21. Wevrick R., Earnshaw W. C., Howard-Peebles P. N., Willard H. F. Partial deletion of alpha satellite DNA associated with reduced amounts of the centromere protein CENP-B in a mitotically stable human chromosome rearrangement. Mol Cell Biol. 1990 Dec;10(12):6374–6380. doi: 10.1128/mcb.10.12.6374. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Willard H. F. Centromeres of mammalian chromosomes. Trends Genet. 1990 Dec;6(12):410–416. doi: 10.1016/0168-9525(90)90302-m. [DOI] [PubMed] [Google Scholar]
  23. Young B. S., Pession A., Traverse K. L., French C., Pardue M. L. Telomere regions in Drosophila share complex DNA sequences with pericentric heterochromatin. Cell. 1983 Aug;34(1):85–94. doi: 10.1016/0092-8674(83)90138-1. [DOI] [PubMed] [Google Scholar]
  24. Zinkowski R. P., Meyne J., Brinkley B. R. The centromere-kinetochore complex: a repeat subunit model. J Cell Biol. 1991 Jun;113(5):1091–1110. doi: 10.1083/jcb.113.5.1091. [DOI] [PMC free article] [PubMed] [Google Scholar]

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

RESOURCES