Chromosomal Breakage and Acute Leukemia in Congenital Telangiectatic Erythema and Stunted Growth
Authors: ARTHUR SAWITSKY
Journal: Annals of Internal Medicine (1966)

Article1 September 1966Chromosomal Breakage and Acute Leukemia in Congenital Telangiectatic Erythema and Stunted GrowthARTHUR SAWITSKY, M.D., DAVID BLOOM, M.D., JAMES GERMAN, M.D., F.A.C.P.ARTHUR SAWITSKY, M.D.Search for more papers by this author, DAVID BLOOM, M.D.Search for more papers by this author, JAMES GERMAN, M.D., F.A.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-65-3-487 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptInvestigation of unusual and unexplainable aspects of leukemia may lead toward further understanding of malignant neoplasia. This is a report of three individuals with a rare and only recently recognized developmental defect, congenital telangiectatic erythema with stunted growth, who have died of acute leukemia. The data derived from their study have not beendocumented previously, and their significance is uncertain.Twenty-three cases of the rare syndrome, originally described in 1954 by Bloom, either have been reported in the scientific literature or are known personally to the authors (1-3). This syndrome is characterized by a low birth weight but otherwise generally...References1. BLOOM D: Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Amer. J. Dis. Child. 88: 754, 1954. Google Scholar2. BLOOM D: The syndrome of congenital telangiectatic erythema and stunted growth. Observations and studies. J. Pediat. 68: 103, 1966. CrossrefMedlineGoogle Scholar3. GERMAN J: The genetics of Bloom's syndrome. In preparation. Google Scholar4. GERMANARCHIBALDBLOOM JRD: Chromosomal breakage in a rare and probably genetically determined syndrome of man. Science 148: 506, 1965. CrossrefMedlineGoogle Scholar5. GERMAN J: Cytological evidence for crossing-over in vitro in human lymphoid cells. Science 144: 298, 1964. CrossrefMedlineGoogle Scholar6. GERMAN J: Unpublished data, 1964. Google Scholar7. SCHEINSANCHEZ MEDAL ML: In preparation, 1966. Google Scholar8. TORRE DP: Primordial dwarfism: discoid lupus erythematosus. Arch. Derm. (Chicago) 69: 511, 1954. Google Scholar9. SAWITSKYBERKMANGERMAN AJJ: Pathological findings in Bloom's syndrome. In preparation. Google Scholar10. BROOKE JH: A simple method of preparing phytohemagglutinin. Mammalian Chromosomes, Newsletter no. 7, p. 15, 1962. Google Scholar11. SCHROEDERANSCHÜTZKNOPP TMFA: Spontane Chromosomenaberrationen bei familiären Panmyelopathie. Humangenetik 1: 194, 1964. MedlineGoogle Scholar12. BLOOMGERALDWARNERDIAMOND GEPSSLK: Chromosome aberrations in constitutional aplastic anemia and their possible relation to other hematopoietic disorders (abstract). J. Pediat. 67: 924, 1964. CrossrefGoogle Scholar13. SCHMIDSCHÄRERBAUMANNFANCONI WKTG: Chromosomenbruchigkeit bei der familiären Panmylopathie (Typus Fanconi). Schweiz. Med. Wschr. 95: 1461, 1965. MedlineGoogle Scholar14. BLOOMWARNERGERALDDIAMOND GESPSLK: Chromosome abnormalities in constitutional aplastic anemia. New Eng. J. Med. 274: 8, 1966. CrossrefMedlineGoogle Scholar15. GERMANCRIPPA JLP: Chromosomal breakage in diploid cell lines from Bloom's syndrome and Fanconi's anemia. Ann. Genet. vol. 9, 1966. Google Scholar16. TURPINLEJEUNE RJ: Les Chromosomes Humains. Gauthier-Villars, Paris, 1965, Chap. VIII. Google Scholar17. MILLER RW: Down's syndrome (mongolism), other congenital malformations and cancers mong the sibs of leukemic children. New Eng. J. Med. 268: 393, 1963. CrossrefGoogle Scholar18. SANDBERG AA: Chromosomes and leukemia. CA 15: 2, 42, 1965. Google Scholar19. LÖHRWALLERANSCHÜTZKNOPP GWHDFA: Biochemische Defekte in den Blutzellen bei familiären Panmyelopathie (Typus Fanconi). Humangenetik 1: 383, 1965. MedlineGoogle Scholar20. NOWELL PC: Mitotic inhibition and chrocosome damage by mitomycin in human leukocyte cultures. Exp. Cell Res. 33: 445, 1964. CrossrefMedlineGoogle Scholar21. SHAWCOHEN MWMM: Chromosome exchanges in human leucocytes induced by mitomycin C. Genetics 51: 181, 1965. CrossrefMedlineGoogle Scholar22. LA ROCKGERMAN JJ: Chromosomal breakage and rearrangement in human diploid fibroblasts by mitomycin C (abstract). Excerp. Med. Section 1 (no. 10): T29a, 1965. Google Scholar23. SAWITSKYBLOOMGERMAN ADJ: Chromosomal breakage and leukemia in congenital telangiectatic erythema with stunted growth (abstract). Blood 26: 867, 1965. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: New Hyde Park and New York, New YorkFrom the Division of Hematology, Department of Laboratories, Long Island Jewish Hospital, New Hyde Park, N. Y., and the Division of Human Genetics, Department of Pediatrics, Cornell University Medical College, New York, N. Y.This study was supported in part by research grant HD-00635 from the National Institute of Child Health and Human Development, and a grant from The National Foundation.Dr. Sawitsky was the recipient of grants from the United Leukemia Fund and the Zelda Grossberg Foundation.This paper was presented in part at the annual meeting of the American Society of Hematology in Philadelphia, December 8, 1965.Requests for reprints should be addressed to Arthur Sawitsky, M.D., Hematology Research Laboratory, Long Island Jewish Hospital, 270-05 76th Ave., New Hyde Park, Long Island, N. Y. 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Chromosomal and immunologic abnormalitiesThe Genetic Aspects of Facial AbnormalitiesAplastic anemia followed by leukemia in congenital trisomy 8 mosaicism:Ultrastructural studies of polymorphonuclear cells in peripheral bloodThe Genetic Aspects of Human CancerCytogenetic analysis of X-ray-induced chromosome aberrations in spontaneously leukaemic AKR miceGenetics of Tumor CellsFactors which may predispose to lymphoreticular malignanciesSaccharin: Lack of chromosome-damaging activity in chinese hamsters in vivoEvaluation of short-term tests for carcinogenicityAcute Leukaemia Associated with an Abnormal GenotypeChromosomal Changes in Human Tumors and LeukemiasLSD-25 Effects on Chromosomes: A ReviewChromosome breakage in users of marihuanaLSD?an in vivo retrospective chromosome studyDisorders of Bone Marrow ProductionEye Findings Associated with Pediatric MalignancyAcute Leukemia with "Burkitt's Lymphoma Cells" and Burkitt's Lymphoma Simultaneous Onset in American Siblings; Description of a New EntityDAVID A. STEVENS, M.D., GREGORY T. O'CONOR, M.D., PAUL H. LEVINE, M.D., ROBERT B. ROSEN, M.D.PKE-CANCER AND THE SKINInduced Chromosomal Aberrations in ManBeitrag zum Bloom-SyndromReferencesChromosome studies in a “cancer family”LSD and Genetic DamageAnomalien des Wachstums und der KörperformParadoxical frequencies of recessive disorders in Ashkenazic JewsBIBLIOGRAPHYLymphosarcoma in siblings, associated with cytogenetic abnormalities, immune deficiency, and abnormal erythropoiesisDiseases of JewsMultiple Myeloma and Acute Myelomonocytic LeukemiaLSD-25 Effects on Chromosomes: A ReviewNeigung zu Chromosomenbr�chen bei Russel-SyndromEffect of chlordiazepoxide hydrochloride on human chromosomesTHE EFFECT OF IRRADIATED PLASMA ON NORMAL HUMAN CHROMOSOMES AND ITS RELEVANCE TO THE LONG-LIVED LYMPHOCYTE HYPOTHESISA cytogenetic study of familial deafness.Chromosomal Aberrations in Two Cases of Inherited Aplastic Anemia with Unusual Clinical FeaturesRICHARD J. HIRSCHMAN, M.D., N. RAPHAEL SHULMAN, M.D., JULIAN G. ABUELO, M.D., JACQUELINE WHANG-PENG, M.D.Immunological and Chromosomal Studies in First-Degree Relatives of Children with Acute Lymphoblastic LeukaemiaSome effects of diazepam in human cells in vitroChromosomal peculiarities and ?in vitro? examinations in Fanconi's anaemiaCytogenetische, immunologische und cytologische Familienuntersuchungen bei Bloom-SyndromPerspectives in The Epidemiology Of LeukemiaViral transformation of cells from persons at high risk of cancerCHROMOSOME ABNORMALITIES IN ANEMIASCHROMOSOME ABNORMALITIES IN ANEMIASChromosomes and causation of human cancer and leukemia. V. 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