Histopathology and molecular cytogenetics of a corneal opacity associated with the trisomy 8 mosaic syndrome (46,XY/47,XY, +8)

Cornea

Volumn 16, Issue 1, 1997, Pages 35-41

  Scott, J Angus ^a   Howard, Peter J ^b   Smith, Peter A ^b   Fryer, Alan ^b   Easty, David L ^c   Patterson, Alan ^a   Kaye, Stephen B ^a  

^a ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^b ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^c UNIVERSITY OF BRISTOL   (United Kingdom)

Author keywords

Corneal opacity; Fluorescence in situ hybridisation; Lamellar keratoplasty; Trisomy 8 mosaic syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHORISTOMA; CHROMOSOME 8; CHROMOSOME ANALYSIS; CORNEA OPACITY; CYTOGENETICS; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; KARYOTYPE; KERATOPLASTY; MALE; MOSAICISM; ONCOGENE C MYC; PRESCHOOL CHILD; PRIORITY JOURNAL; TRISOMY 8;

EID: 0031025750     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/00003226-199701000-00008     Document Type: Article

References (33)

1. Frangoulis M, Taylor D. Corneal opacities - a diagnostic feature of the trisomy 8 mosaic syndrome. Br J Ophthalmol 1983;67:619-22.
2. Stark DJ, Gilmore DW, Vance JC, Pearn JH. A corneal abnormality associated with trisomy 8 mosaicism syndrome. Br J Ophthalmol 1987;71:29-31.
3. Benitez J, Valcarcel E, Ramos C, Ayuso C, Cascos AS. Frequency of constitutional chromosome alterations in patients with hematologic neoplasias. Cancer Genet Cytogenet 1987;24:345-54.
4. Kapaun P, Kabisch H, Held KR, Walter TA, Hegewisch S, Zander AR. Atypical chronic myelogenous leukemia in a patient with trisomy 8 mosaicism syndrome. Ann Hematol 1993;66:57-8.
5. Lessick M, Israel J, Szego K, Wong P. Leiomyosarcoma in a patient with trisomy 8 mosaicism. J Med Genet 1990;27: 643-4.
6. Hasle H, Clausen N, Pedersen B, Bendix-Hansen K. Myelodysplastic syndrome in a child with constitutional trisomy 8 mosaicism and normal phenotype. Cancer Genet Cytogenet 1995;79:79-81.
7. Mastrangelo R, Tornesello A, Mastrangelo S, Zollino M, Neri G. Constitutional trisomy 8 mosaicism evolving to primary myelodysplastic syndrome: a new subset of biologically related patients? [Letter]. Am J Hematol 1995;48:67-8.
8. Riccardi VM, Humbert JR, Peakman D. Acute leukemia associated with trisomy 8 mosaicism and a familial translocation 46,XY,t(7;20)(p13;p12). Am J Med Genet 1978;2:15-21.
9. Mark FL, Ahearn J, Lathrop JC. Constitutional trisomy 8 mosaicism and gestational trophoblastic disease. Cancer Genet Cytogenet 1995;80:150-4.
10. Haas OA, Seyger M. Hypothesis: meiotic origin of trisomic neoplasms. Cancer Genet Cytogenet 1993;70:112-6.
11. DeBrasi D, Genardi M, D'Agostino A, et al. Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8. Hum Genet 1995;95:519-25.
12. Schaumann B, Cervenka J, Gorlin RJ. Dermatoglyphics in Trisomy 8 Mosaicism. Humangenetik 1974;24:201-5.
13. Mark HF. Phenotypic variability in trisomy 8 mosaicism is consistent with the hypothesis of meiotic origin of trisomie neoplasms [Letter]. Cancer Genet Cytogenet 1994;76:158.
14. Kurtyka ZE, Krzykwa B, Piatkowska E, Radwan M, Pietrzyk JJ. Trisomy 8 mosaicism syndrome. Two cases demonstrating variability in phenotype. Clin Pediatr (Phila) 1988;27:557-64.
15. Klein J, Graham JM Jr, Platt LD, Schreck R. Trisomy 8 mosaicism in chorionic villus sampling: case report and counselling issues. Prenat Diagn 1994;14:451-4.
16. Camurri L, Chiesi A. A three-year follow-up on a child with low level trisomy 8 mosaicism which was diagnosed prenatally. Prenat Diagn 1991;11:59-62.
17. Gorlin RJ, Cohen MM Jr, Levin LS, eds. Trisomy 8 syndrome. In: Syndromes of the head and neck, 3rd ed. Oxford, England: Oxford University Press, 1990:49-50.
18. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991;87:81-3.
19. Rosengren SS, Cassidy SB. Chromosome 8, trisomy 8. In: Buyse ML, ed. Birth defects encyclopedia. Dover, MA: Center for Birth Defects Information Service, 1993:351-2.
20. Bentz M, Schroder M, Herz M, Stilgenbauer S, Lichter P, Dohner H. Detection of trisomy 8 on blood smears using fluorescence in situ hybridization. Leukemia 1993;7:752-7.
21. Wurster-Hill DH, Brown F, Park JP, Gibson SH. Cytogenetic studies in Dupuytren contracture. Am J Hum Genet 1988;43:285-92.
22. Bonnici AV, Birjandi F, Spencer JD, Fox SP, Berry AC. Chromosomal abnormalities in Dupuytren's contracture and carpal tunnel syndrome. J Hand Surg [Br] 1992;17:349-55.
23. Somers KD, Winters BA, Dawson DM, et al. Chromosome abnormalities in Peyronie's disease. J Urol 1987;137:672-5.
24. Mitelman F. Catalog of chromosome aberrations in cancer, vol. 1, 4th ed. New York: Wiley-Liss, 1991:575-684.
25. Riccardi VM, Atkins L, Holmes LB. Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicism. J Pediatr 1970;77:664-72.
26. Cassidy SB, McGee BJ, van Eys J, Nance WE, Engel E. Trisomy 8 syndrome. Pediatrics 1975;56:826-31.
27. Fineman RM, Ablow RC, Howard RO, Albright J, Breg WR. Trisomy 8 mosaicism syndrome. Pediatrics 1975;56:762-7.
28. Weiner MJ, Albert DM. Congenital corneal keloid. Acta Ophthalmol Suppl 1989;192:188-96.
29. Kibbelaar RE, van-Kamp H, Dreef EJ, et al. Detection of trisomy 8 in hematological disorders by in situ hybridization. Cytogenet Cell Genet 1991;56:132-6.
30. Jenkins RB, Le-Beau MM, Kraker WJ, et al. Fluorescence in situ hybridization: a sensitive method for trisomy 8 detection in bone marrow specimens. Blood 1992;79:3307-15.
31. Nguyen PL, Arthur DC, Litz CE, Brunning RD. Fluorescence in situ hybridization (FISH) detection of trisomy 8 in myeloid cells in chronic myeloid leukemia (CML): a study of archival blood and bone marrow smears. Leukemia 1994;8: 1654-62.
32. Procter SE, Watt JL, Lloyd DJ, Duffty P. Problems of detecting mosaicism in skin. A case of trisomy 8 mosaicism illustrating the advantages of in situ tissue culture. Clin Genet 1984;25:273-7.
33. Meisel-Stosiek M, Pfeiffer RA, Tietze HU. Extremer Gewebe-Mozaizismus bei Trisomie 8-Syndrom Trisomie 8 in Fibroblasten bei normalen Karyotyp in Lymphozyten. Klin Padiatr 1983;195:365-8.