Trisomy 8 Mosaicism Syndrome

Abstract

The paper presents clinical manifestations and results of cytogenetic examination of two patients with trisomy 8 mosaicism syndrome. The findings confirm the extreme phenotype variability of this syndrome. Both the first patient, a mentally retarded child with multiple dysmorphic changes, and the second, a 31-year-old woman with normal IQ and hypogammaglobulinemia as a predominant sign, revealed osteoarticular anomalies. Dermatoglyphic studies in both patients were typical for trisomy 8, and correlated with deep skin furrows. The chromosomal analysis was based on two types of lymphocyte cultures: 3-day and 2-day. A decreased percentage of trisomic cells in 3-day cultures in comparison to 2-day cultures may suggest the influence of environmental factors on spontaneous elimination of trisomic cells in vitro.

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References

Riccardi VM Trisomy 8: An international study of 70 patients. Birth Defects 1977;13(3C):171-84.

Schinzel A. , Birs Z. , Schmid W. , Hayasi K. Trisomy 8 mosaicism syndrome. Helv Paediatr Acta 1974; 29:531-40.

Anneren G. , Frodis E. , Jorulf H. Trisomy 8 syndrome-The rib anomaly and some new features in 2 cases. Helv Paediatr Acta 1981;36:465-72.

de Grouchy J. , Turleau K. Autosomal disorders. In: Emery AEH , Rimoin DL , eds. Principles and Practice of Medical Genetics. London: Livingstone Ch, 1983:183-4.

Lazjuk GI , Luire IW , Usova II , Gurevich DB , Nedzevd MK Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8,15)mat . Hum Genet 1979;46:335-9.

de Grouchy J. Deficit en facteur VII de la coagulation chez les trois sujets trisomique 8. Ann Genet ( Paris) 1974;17:105-8.

Tuncbilek E. , Halicioglu Ch, Say B. Trisomy 8 syndrome. Humangenetik 1974;23:23-9.

de Grouchy J. , Turleau K. Atlas de Maladies Chromosomiques. Paris: Expansion Scientifique Francaise, 1977;81-94.

Silengo MC , Davi G. , Crua G. , Franceschini P. Trisomy 8 mosaicyzm: Report of a case. Hum Genet 1978;42:323-7.

10.

Berry AC , Mutton DE , Levis DM Mosaicism and the trisomy 8 syndrome. Clin Genet 1978;14:105-14.

11.

Broomhead AF , Kwan YL , Zell NA , Laun-Po-Tang Prl , O'Gorman Hughes D. Acute leukemia characterized by trisomy 8 in Down's syndrome. Pathology 1985;17:111-15.

12.

Diaz MO , le Beau MM , Rowley JD. Drabkin HA , Patterson D. The role of c-mos gene in the 8:21 translocation in human acute myeloblastic leukemia. Science 1985;229:767-9.

13.

Gutenson W. , Rodewald A. , Hass B. , Schulz P. , Cleye H. Refined maping of the gene for glutation reductase on human chromosome 8. Hum Genet 1978; 43:221-4.

14.

Maubach PA , Bauchinger M. , Erumerich B. , Rastetter J. Trisomy 7 and 8 in Ph-negative chronic eosinophilic leukemia. Cancer Gent Cytogenet. 1985;17:159-65.

15.

Nowell PC , Besa EC , Stelmach T. , Finan JB Chromosome studies in preleukemic states: V. prognostic significance of single versus multiple abnormalities. Cancer 1986 ;58:2571-6.

16.

Yunis JJ The chromosomal basis of human neoplasia. Science 1983;221:227-36.

17.

Matthews JG , Swirsky DM , Hayhoe Fgj. An unusual translocation t(3,8) and delation of chromosome 21 in acute myeloid leukemia. Cancer Genet Cytogenet. 1984;12:27-31.

18.

Nishikori M. , Hawen H. , Jharwar S. , et al. Establishment of a near-tetraploid B-cell lymphoma line with duplication of the 8,14 translocation. Cancer Genet Cytogenet 1984;12:39-51.

19.

Nakamura Y. , Nakashimo H. , Fukuda S. , Hashimoto T. , Mamyana M. Bilateral cystic nephroblastoma and multiple malformation with trisomy 8 mosaicism. Hum Pathol 1985;16:754-6.

20.

Reyes PG , Hsu Lyf , Strauss L. , Rose J. , Hischhorn K. Trisomy 8 mosaicism syndrome. Report of monozygotic twins. Clin Genet 1978;14:90-7.

21.

Mikiel-Kostyra K. Aberracje chromosomów. In: Czochańska J. (ed) Neurologia Dziecięca . Warszawa: PZWL, 1985;22-4.

22.

Rodewald A. , Zankl H. , Wischerath H. , Borkowsky-Dehr B. Dermatoglyphic patterns in trisomy 8 syndrome. Clin Genet 1977;12:28-38.

23.

Pfeiffer RA , Kessel E. , Rathgen E. , Kulenkampff M. , Nehring T. Mosaicyzm for an additional chromosome 8,46XX/47 XX+der (8) (p21-qter). Hum Genet 1978;44:207-12.

24.

Silengo MC , Davi GF , Franceschini P. Radiological features in trisomy 8. Pediatr Radiol 1979;8:116-18.

25.

Rutzer L. , Briner J. , Saur F. , Schmid W. Mosaic trisomie 8. Helv Paediatr Acta. 1974 ;29:541-53.

26.

Theilgaard A. , Lundsteen C. , Parving H-H. , Philip J. Trisomy 8 syndrome. A psychological and somatic study of mentally nonretarded male with 46 XY/47 XY+8 chromosome constitution . Clin Genet 1977;12:227-32.

27.

Schinzel A. Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicyzm syndrome. Hum Genet 1977;37:17-26.

28.

Clarc CE , Telfer MA , Cowell HR A case of partial trisomy 8p resulting from a maternal balanced translocation . Am J Med Genet 1980;7:21-7.

29.

Mattei JF , Mattei MG , Avdissone IP , Givaud P. , Coigne I. Clinical, enzymes and cytogenetic investigations in three new cases of trisomy 8p. Hum Genet 1980;53:315-21.

30.

Jacobsen P. , Mikkelsen M. , Rosleff F. The trisomy 8 syndrome. Report of two further cases. Ann Genet 1974;17:87-94.

31.

Atkins L. , Holmes LB , Riccardi VM Trisomy 8. To the editor. J Pediatrics 1974 ;84:302-3.

32.

Crocter SE , Watt JL , Lloyd DJ , Duffy P. Problems of detecting mosaicyzm in skin. A case of trisomy mosaicism illustrating the advantages of in situ tissue culture. Clin Genet 1984;25:273-8.