Rothmund-Thomson syndrome in siblings: Evidence for acquired in vivo mosaicism

Clinical Genetics

Volumn 49, Issue 3, 1996, Pages 124-129

  Lindor, Noralane M ^a   Devries, Ellen M G ^a   Michels, Virginia V ^a   Schad, Christopher R ^a   Jalal, Syed M ^a   Donovan, Kathleen M ^a   Smithson, William A ^a   Kvols, Larry K ^b   Thibodeau, Stephen N ^a   Dewald, Gordon W ^a  

^a MAYO CLINIC   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Osteosarcoma; Poikiloderma; Premature aging; Somatic mosaicism

Indexed keywords

DOXORUBICIN; IFOSFAMIDE; MESNA; METHOTREXATE;

ADULT; ARTICLE; AUTOSOME MOSAICISM; CASE REPORT; CELL CLONE; CENTROMERE; CHROMOSOME 8Q; CONGENITAL SKIN DISEASE; CYTOGENETICS; FEMALE; FEVER; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; LYMPHOCYTE; MALE; MUCOSA INFLAMMATION; NEUTROPENIA; PRIORITY JOURNAL; SOMATIC CELL GENETICS; SPUTUM SMEAR; TRISOMY 8;

EID: 9344253898     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb03270.x     Document Type: Article

References (27)

1. Baro PR, Bastart FM, Bartrina JR, Mateo JM, Vidal MTR. Case report 529: osteosarcoma of calcaneus with Rothmund-Thomson syndrome. Skel Radiol 1989: 18: 136-139.
2. Cervenka J, Arthur O, Yasis C. Mitomycin C test for diagnostic differentiation of idiopathic aplastic aaemia and Fanconi anemia. Pediatrics 1981: 67: 119-127.
3. Cunningham J, Lust JA, Schaid DJ, Bren GD Carpenter HA, Rizza E, Kovach JS, Thibodeau SN. Expression of p53 and 17p alleleic loss in colorectal carcinoma. Cancer Res 1992: 52: 1974-1980.
4. Der Kaloustian VM, McGill JJ, Vekemans M, Kopelman HR. Clonal lines of aneuploid cells in Rothmund-Thomson syndrome. Am J Med Genet 1990: 37: 336-339.
5. Dick DC, Moreg WN, Watson JT. Rothmund-Thomsom syndrome and osteogenic sarcoma. Clin Exp Dermatol 1982: 7: 119-123.
6. Drouin CA, Mongrain E, Sasseville D, Bouchard H-L, Drouin M. Rothmund-Thomson syndrome with osteosarcoma. J Am Acad Dermatol 1993: 28: 301-305.
7. Frebourg T, Friend SH. Cancer risks from germline p53 mutations. J Clin Invest 1992: 90: 1637-1641.
8. Goto M, Rubenstein M, Weber J, Woods K, Drayna D. Genetic linkage to Werner's syndrome to five markers on chromosome 8. Nature 1992: 355: 735-738.
9. Haneke E, Gutschmidt E. Premature multiple Bowen's disease in poikiloderma congenitale with warty hyperkeratoses. Dermatologica 1979: 158: 384-388.
10. Hoehn H, Bryant EM, Au K, Norwood TH, Boman H, Martin GM. Variegated translocation mosaicism in human skin fibroblast cultures. Cytogenet Cell Genet 1975: 15: 282-298.
11. Kozlowski K, Scougall JS, Dates RK. Osteosarcoma in a boy with Rothmund-Thomson syndrome. Pediatr Radiol 1980: 10: 42-45.
12. Jenkins RB, LeBeau MM, Kraker WT, Borell TJ. Stalboerger PG, Davis EM, Penland L, Fernold A, Espinosa R, Schaid DJ, Noel P, Dewald GW. Fluorescence in situ hydridization: asensitive method for trisomy 8 detection in bone marrow specimens. Blood 1992: 79: 3307-3315.
13. Jones KL. Smith's Recognizable patterns of human malformation, 4th edn. Philadelphia: W.B. Saunders Co., 1988.
14. Judge MR, Kilby A, Harper JI. Rothmund-Thomson syndrome and osteosarcoma. Br J Derm 1993: 129: 723-725.
15. Moss C, Bacon CJ, Mueller RF. "Isolated" radial ray defect may be due to Rothmund-Thomson syndrome [letter]. Clin Genet 1990: 38: 318-319.
16. Orstavik KH, McFadden N, Hageisteen J, Ormerod E, van der Hagen CB. Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. J Med Genet 1994: 31: 570-572.
17. Rebaud P. A familial case of Rothmund-Thomsom. A case in favor of the uniqueness of the syndrome associated with osteosarcoma] Pediatrie 1985: 40: 487-492.
18. Salk D. Werner's syndrome: review of recent research with an analysis of connective tissue metabolism, growth control of cultured cells, and chromosomal aberrations. Hum Genet 1982: 62: 1-15.
19. Shinya A, Nishigori C, Moriwaki S, Takebe H, Kubota M, Ogino A, Imamura S. A case of Rothmund-Thomson syndrome with reduced DNA repair capacity. Arch Dermatol 1993: 129: 332-336.
20. Sim FH, DeVries EM, Miser JS, Unni KK. Case report 760. Osteoblastic oseosarcoma (grade 4) with Rothmund-Thomson syndrome. Skel Radiol 1992: 21: 543-545.
21. Smith PJ, Paterson MC. Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund Thomson syndrome patients. Mutat Res 1982: 94: 213-228.
22. Starr DG, McClure JP, Connor JM. Non-dermatologic complications and genetic aspects of the Rothmund-Thomson syndrome. Clin Genet 1985: 27: 102-104.
23. Taylor AMR, Rosney CM, Campbell JB. Unusual sensitivity of ataxia telangiectasia cells to bleomycin. Cancer Res 1979: 39: 1046-1050.
24. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993: 260: 816-819.
25. Varughese M, Leavey P, Smith P, Sneath R, Breatnach F, O'Meara A. Osteogenic sarcoma and Rothmund-Thomson syndrome. J Cancer Res Clin Oncol 1992: 118: 389-390.
26. Vennos EM, Collins M, James WD, Rothmund-Thomson syndrome: review of the world literature. J Am Acad Dermatol 1992: 27: 750-762.
27. Ying KL, Olzumi J, Curry CJ. Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. J Med Genet 1990: 27: 258-260.