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. 1994 Mar;31(3):238–241. doi: 10.1136/jmg.31.3.238

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

M C Digilio 1, A Giannotti 1, G Floridia 1, F Uccellatore 1, R Mingarelli 1, C Danesino 1, B Dallapiccola 1, O Zuffardi 1
PMCID: PMC1049750  PMID: 8014974

Abstract

Two patients with trisomy 8 syndrome owing to an isodicentric 8p;8p chromosome are described. Case 1 had a 46,XX/46,XX,-8,+idic(8)(p23) karyotype while case 2, a male, had the same abnormal karyotype without evidence of mosaicism. In situ hybridisation, performed in case 1, showed that the isochromosome was asymmetrical. Agenesis of the corpus callosum (ACC), which is a feature of trisomy 8 syndrome, was found in both patients. Although ACC is associated with aneuploidies for different chromosomes, a review of published reports indicates that, when associated with chromosome 8, this defect is the result of duplication of a gene located within 8p21-pter. Molecular analysis in one of our patients led us to exclude the distal 23 Mb of 8p from this ACC region.

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Selected References

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

  1. Bardoni B., Zuffardi O., Guioli S., Ballabio A., Simi P., Cavalli P., Grimoldi M. G., Fraccaro M., Camerino G. A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics. 1991 Oct;11(2):443–451. doi: 10.1016/0888-7543(91)90153-6. [DOI] [PubMed] [Google Scholar]
  2. 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]
  3. Chiyo H. A., Nakagome Y., Matsui I., Kuroki Y., Kobayashi H. Two cases of 8p trisomy in one sibship. Clin Genet. 1975 Apr;7(4):328–333. doi: 10.1111/j.1399-0004.1975.tb00337.x. [DOI] [PubMed] [Google Scholar]
  4. Coffin G. S., Siris E. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child. 1970 May;119(5):433–439. doi: 10.1001/archpedi.1970.02100050435009. [DOI] [PubMed] [Google Scholar]
  5. Ferguson-Smith M. A., Affara N. A., Magenis R. E. Ordering of Y-specific sequences by deletion mapping and analysis of X-Y interchange males and females. Development. 1987;101 (Suppl):41–50. doi: 10.1242/dev.101.Supplement.41. [DOI] [PubMed] [Google Scholar]
  6. Fineman R. M., Ablow R. C., Breg W. R., Wing S. D., Rose J. S., Rothman S. L., Warpinski J. Complete and partial trisomy of different segments of chromosome 8: case reports and review. Clin Genet. 1979 Dec;16(6):390–398. doi: 10.1111/j.1399-0004.1979.tb01347.x. [DOI] [PubMed] [Google Scholar]
  7. Funderburk S. J., Barrett C. T., Klisak I. Report of a trisomy 8p infant with carrier father. Ann Genet. 1978 Dec;21(4):219–222. [PubMed] [Google Scholar]
  8. Hutchinson R., Wilson M., Voullaire L. Distal 8p deletion (8p23.1----8pter): a common deletion? J Med Genet. 1992 Jun;29(6):407–411. doi: 10.1136/jmg.29.6.407. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Jones L. A., Dengler D. R., Taysi K., Shackelford G. D., Hartmann A. F. Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation. J Med Genet. 1980 Jun;17(3):232–235. doi: 10.1136/jmg.17.3.232. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Lazjuk G. I., Lurie I. W., Usova Y. I., Gurevich D. B., Nedzved M. K. Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat. Hum Genet. 1979 Feb 15;46(3):335–339. doi: 10.1007/BF00273318. [DOI] [PubMed] [Google Scholar]
  11. Lichter P., Tang C. J., Call K., Hermanson G., Evans G. A., Housman D., Ward D. C. High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science. 1990 Jan 5;247(4938):64–69. doi: 10.1126/science.2294592. [DOI] [PubMed] [Google Scholar]
  12. Memo L., Lenzini E., Baccichetti C. Trisomy 8p by malsegregation of a t(5;8)(p15;p11)mat in a case of XY pure gonadal dysgenesis. Ann Genet. 1988;31(3):181–185. [PubMed] [Google Scholar]
  13. Minelli A., Floridia G., Rossi E., Clementi M., Tenconi R., Camurri L., Bernardi F., Hoeller H., Previde Re C., Maraschio P. D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p). Hum Genet. 1993 Oct;92(4):391–396. doi: 10.1007/BF01247342. [DOI] [PubMed] [Google Scholar]
  14. Moore C. M., Barnum K., Kaye C. I., Kagan-Hallett K. S., Liang J. C. Trisomy 8p: unusual origin detected by fluorescence in situ hybridization. Hum Genet. 1992 May;89(3):307–310. doi: 10.1007/BF00220547. [DOI] [PubMed] [Google Scholar]
  15. Moreno Fuenmayor H. M., Meilinger K. L., Rucknagel D. L., Mohrenweiser H. L., Chu E. H. Duplication 8p syndrome: studies in a family with a reciprocal translocation between chromosomes 8 and 12. Am J Med Genet. 1980;7(3):361–368. doi: 10.1002/ajmg.1320070318. [DOI] [PubMed] [Google Scholar]
  16. Newton D., Hammond L., Wiley J., Kushnick T. Mosaic tetrasomy 8p. Am J Med Genet. 1993 Jun 15;46(5):513–516. doi: 10.1002/ajmg.1320460510. [DOI] [PubMed] [Google Scholar]
  17. Pezzolo A., Bicocchi M. P., Zampatti C., Cuoco C., Gimelli G. Prenatal diagnosis of a partial 8p trisomy. Prenat Diagn. 1990 Aug;10(8):533–538. doi: 10.1002/pd.1970100809. [DOI] [PubMed] [Google Scholar]
  18. Ray M., Hunter A. G. Partial trisomy 8 mosaicism with 46,XX/46,XX-8,+dic(8). Ann Genet. 1980;23(2):100–102. [PubMed] [Google Scholar]
  19. Rethoré M. O., Aurias A., Couturier J., Dutrillaux B., Prieur M., Lejeune J. Chromosome 8 : trisomie complète et trisomies segmentaires. Ann Genet. 1977 Mar;20(1):5–11. [PubMed] [Google Scholar]
  20. Riccardi V. M. Trisomy 8: an international study of 70 patients. Birth Defects Orig Artic Ser. 1977;13(3C):171–184. [PubMed] [Google Scholar]
  21. Robinow M., Haney N., Chen H., Sorauf T., Van Dyke D. L., Babu V. R., Powell S., Maliszewski W., Guerin S., Landers J. W. Secondary trisomy or mosaic "tetrasomy" 8p. Am J Med Genet. 1989 Mar;32(3):320–324. doi: 10.1002/ajmg.1320320309. [DOI] [PubMed] [Google Scholar]
  22. Schinzel A. Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome. Hum Genet. 1977 Jun 10;37(1):17–26. doi: 10.1007/BF00293767. [DOI] [PubMed] [Google Scholar]
  23. Schmidtke J., Arnemann J., Schmid M., Baum F., Mayerova A., Langenbeck U., Hansmann I. A male with a monocentric Yq isochromosome and presence of a Yp-specific DNA sequence. Hum Genet. 1985;69(2):135–137. doi: 10.1007/BF00293283. [DOI] [PubMed] [Google Scholar]
  24. Serur D., Jeret J. S., Wisniewski K. Agenesis of the corpus callosum: clinical, neuroradiological and cytogenetic studies. Neuropediatrics. 1988 May;19(2):87–91. doi: 10.1055/s-2008-1052407. [DOI] [PubMed] [Google Scholar]
  25. Somerville M. J., McLachlan D. R., Percy M. E. Localization of the 68,000-Da human neurofilament gene (NF68) using a murine cDNA probe. Genome. 1988 Aug;30(4):499–500. doi: 10.1139/g88-083. [DOI] [PubMed] [Google Scholar]
  26. Stengel-Rutkowski S., Warkotsch A., Schimanek P., Stene J. Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates. Clin Genet. 1984 Jun;25(6):500–521. doi: 10.1111/j.1399-0004.1984.tb00494.x. [DOI] [PubMed] [Google Scholar]
  27. Wood S., Schertzer M., Drabkin H., Patterson D., Longmire J. L., Deaven L. L. Characterization of a human chromosome 8 cosmid library constructed from flow-sorted chromosomes. Cytogenet Cell Genet. 1992;59(4):243–247. doi: 10.1159/000133260. [DOI] [PubMed] [Google Scholar]

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