Dyskeratosis Congenita Is a Chromosomal Instability Disorder

References

• Zinsser F. Atrophia cutis reticularis cum pigmenta-tione, dystrophia unguium et leukoplakia oris. Ikonogr. Dermatol., (Hyoto) 1906; 5: 219–223
   Google Scholar
• Engmann M.F. A unique case of reticular pigmentation of the skin with atrophy. Arch. Dermatol. Syph. 1926; 13: 685–687
   Google Scholar
• Cole H.N., Rauschkolb J.C., Toomey J. Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris. Arch. Dermatol. Syph. 1930; 21: 71–95
   Google Scholar
• Sirinavin C., Trowbridge A.A. Dyskeratosis congenita: Clinical features and genetic aspects: report of a family and review of the literature. J. Med. Genet. 1975; 12: 339–354
   PubMed Web of Science ®Google Scholar
• Davidson H.R., Connor J.M. Dyskeratosis congenita. J. Med. Genet 1988; 25: 843–846
   PubMed Web of Science ®Google Scholar
• Drachtman R.A., Alter B.P. Dyskeratosis congenita: Clinical and genetic heterogeneity. Am. J. Pediatr. Hematol. Oncol. 1992; 14(4)297–304
   PubMedGoogle Scholar
• Forni G.L., Melevendi C., Jappelli S., Rasore-Quar-Tino A. Dyskeratosis congenita: Unusual presenting features within a kindred. Paediatr. Hematol. Oncol. 1993; 10: 145–149
   PubMed Web of Science ®Google Scholar
• Gasparini G., Sambvani N., Guidarelli C., Sarchi G., Pietro A.D., Raimondi E., Romagnoni M.M., Stefanini M. Sindrome di Zinsser-Cole-Engman: A proposito di due casi a transmissione autosomica dominante. Giornale Italiano Dermatol. Venereal. 1985; 120: 429–433
   PubMedGoogle Scholar
• Connor J.M., Gatherer D., Gray F.C., Pirrit L.A., Affara N.A. Assignment of the gene for dyskeratosis congenita to Xq28. Hum. Genet. 1986; 72: 348–351
   PubMed Web of Science ®Google Scholar
• Arngrimsson R., Dokal I., Luzzatto L., Connor J.M. Dyskeratosis congenita: Three additional families show linkage to a locus in Xq28. J. Med. Genet. 1993; 30: 618–619
   PubMed Web of Science ®Google Scholar
• Kehrer H., Krone W., Schindler D., Kaufmann R., Schrezenmeier H. Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. Clin. Genet. 1992; 41: 129–134
   PubMed Web of Science ®Google Scholar
• Scoggins R.B., Prescott K.J., Asher G.H., Blaylock W.K., Bright R.W. Dyskeratosis congenita with Fanconi-type anemia: Investigations of immunologic and other defects. Clin. Res. 1971; 19: 409
   Google Scholar
• Morrison J.G. Dyskeratosis congenita, two extremes. S. Afr. Med. J. 1974; 48: 223–225
   PubMed Web of Science ®Google Scholar
• Aguilar-Martinez A., Lautre-Ecenarro M.J., Urbina-Gon-Zalez F., Cristobal-Gil M.C., Guerra-Rodreguez P., Garcia-Perez A. Cytogenetic abnormalities in dyskeratosis congenita-report of five cases. Clin. Exp. Dermatol. 1988; 13: 100–104
   PubMed Web of Science ®Google Scholar
• Inoue S., Mekanik G., Mahallati M., Zueler W.W. Dyskeratosis congenita with pancytopenia. Another constitutional anemia. Am. J. Dis. Child. 1973; 126: 389–396
   PubMedGoogle Scholar
• Schroeder T.M., Hofbauer M. Letter to the Editor. Dermatologica 1974; 148: 316–317
   Google Scholar
• Gutman A., Frumkin A., Adam A., Bloch-Shtacher N., Rozenszajn L.A. X-linked dyskeratosis congenita with pancytopenia. Arch. Dermatol. 1978; 114: 1667–1671
   PubMed Web of Science ®Google Scholar
• Connor J.M., Teague R.H. Dyskeratosis congenita: report of a large kindred. Br. J. Dermatol. 1981; 105: 321–325
   PubMed Web of Science ®Google Scholar
• Womer R., Clark J.E., Wood P., Sabio H., Kelley T.E. Dyskeratosis congenita: two examples of this multisystem disorder. Pediatrics 1983; 71: 603–609
   PubMed Web of Science ®Google Scholar
• Pai G.S., Yan Y., De Bauche D.M., Stanley W.S., Paul S.R. Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes, and transformed lympho-blasts. Cytogenet. Cell. Genet. 1989; 52: 186–189
   PubMedGoogle Scholar
• Burgdorf W., Kurvink K., Cervenka J. Sister chromatid exchange in dyskeratosis congenita lymphocytes. J. Med. Genet. 1977; 14: 256–257
   PubMed Web of Science ®Google Scholar
• Carter D.M., Pan M., Gaynor A., McGuire J.S., Sibrack L. Psoralen-DNA cross-linking photoadducts in dyskeratosis congenita: Delay in excision and promotion of sister chromatid exchange. J. Invest. Dermatol. 1979; 73: 97–101
   PubMed Web of Science ®Google Scholar
• Kano Y., Fuziwara Y. Dyskeratosis congenita: survival, sister-chromatid exchange and repair following treatment with crosslinking agents. Mutat. Res. 1982; 103: 327–332
   PubMed Web of Science ®Google Scholar
• Juneja H.S., Elder F. F. B., Gardner F.H. Abnormality of platelet size and T-lymphocyte proliferation in an autosomal recessive form of dyskeratosis congenita. Eur. J. Haematol. 1987; 39: 306–310
   PubMed Web of Science ®Google Scholar
• Auerbach A.D., Adler B., Chaganti R. S. K. Prenatal and postnatal diagnosis and carrier detection of Fan-coni anemia by a cytogenetic method. Paediatrics 1981; 67: 128–135
   PubMed Web of Science ®Google Scholar
• Philips R.J., Judge M., Webb D., Harper J.I. Dyskeratosis congenita: Delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation. Br. J. Dermatol. 1992; 127: 278–280
   PubMed Web of Science ®Google Scholar
• Schneider A., Mayer U., Gebhart E., Harma D., Gromball J., Glockell U., Beck J.D. Clastogen-in-duced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anemia. Eur. J. Pediatr. 1988; 148: 37–39
   PubMed Web of Science ®Google Scholar
• DeBauche D.M., Pai G.S., Stanley W.S. En hanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts. Am. J. Hum. Genet. 1990; 46: 350–357
   PubMed Web of Science ®Google Scholar
• Dokal I., Bungey J., Williamson P., Oscier D., Hows J., Luzzatto L. Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. Blood 1992; 80: 3090–3096
   PubMed Web of Science ®Google Scholar
• Scappaticci S., Fraccaro M., Cerimele D. Chromosomal abnormalities in dyskeratosis congenita. Am. J. Med. Genet. 1989; 34: 609–610
   PubMed Web of Science ®Google Scholar
• Kehrer H., Krone W. Chromosome abnormalities in cell cultures derived from the leukoplakia of a female patient with dyskeratosis congenita. Am. J. Med. Genet. 1992; 42: 217–218
   PubMed Web of Science ®Google Scholar
• Marsh J. C. W., Will A.J., Hows J.H., Sartori P., Derbyshire P., Williamson P.J., Oscier D.G., Dexter T.M., Testa N.G. “Stem cell” Origin of the Hematopoietic Defect in Dyskeratosis Congenita. Blood 1992; 79: 3138–3144
   PubMed Web of Science ®Google Scholar
• Stark R., Thierry D., Richard P., Gluckman E. Long-term bone marrow culture in Fanconi's anaemia. Br. J. Haematol. 1993; 83: 554–559
   PubMed Web of Science ®Google Scholar