Fanconi's Anemia
Authors: MICHAEL R. SWIFT
Journal: Annals of Internal Medicine (1966)

Article1 September 1966Fanconi's AnemiaInherited Susceptibility to Chromosome Breakage in Various TissuesMICHAEL R. SWIFT, M.D., KURT HIRSCHHORN, M.D.MICHAEL R. SWIFT, M.D., KURT HIRSCHHORN, M.D.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-65-3-496 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe finding of frequent chromosomal breaks and rearrangements in the lymphocytes of patients with Fanconi's anemia (1-5) has reawakened interest in the pathogenesis of this syndrome. Almost all reported cases of Fanconi's anemia have been in children; the diagnosis depends on the presence of multiple congenital malformations in a patient with progressive pancytopenia (6, 7). Leukemias and solid malignant neoplasms have been remarkably frequent in patients with Fanconi's anemia and in members of their families (3, 8).The children who suffer from the disease are almost always short and relatively dark-skinned from birth, although abnormalities in the peripheral blood may...References1. SCHROEDERANSCHUTZKNOPP TMFA: Spontane Chromosomen aberrationen bei familiarer Panmyelopathie. Humangenetik 1: 194, 1964. MedlineGoogle Scholar2. HOEFNAGELSULLIVANMCINTYRE DMMOR: Cytogenetic observations in two cousins with Fanconi's anemia. Presented at Fourth Mammalian Cytology and Somatic Cell Genetics Conference, Williamsburg, Virginia, November, 1965. Google Scholar3. BLOOMWARNERGERALDDIAMOND GESPSLK: Chromosome abnormalities in constitutional aplastic anemia. New Eng. J. Med. 274: 8, 1966. CrossrefMedlineGoogle Scholar4. LEJEUNE J: Personal communication. Google Scholar5. 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BUCKTONJACOBSCOURT BROWNDOLL KEPAWMR: A study of the chromosome damage persisting after X-ray therapy for ankylosing spondylitis. Lancet 2: 676, 1962. CrossrefMedlineGoogle Scholar18. NORMANSASAKIOTTOMANFINGERHUT AMSREAG: Lymphocyte lifetime in women. Science 147: 745, 1965. CrossrefMedlineGoogle Scholar19. SJOLINWRANNE SL: Erythropoietic dysfunction in a case of Fanconi's anaemia. Acta Haemat. (Basel) 28: 230, 1962. CrossrefMedlineGoogle Scholar20. TODAROGREENSWIFT GJHMR: Susceptibility of human diploid fibroblast strains to Fanconi's anemia. Science. In press, 1966. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: MICHAEL R. SWIFT, M.D.; KURT HIRSCHHORN, M.D.Affiliations: New York, New YorkFrom the Departments of Neurology and Medicine, New York University Medical Center, New York, N. Y.This study was supported by grants HD 00542, GM-466, and FR-96, The U. S. Public Health Service, Washington, D. C., and grants from the American Heart Association, the New York City Health Research Council, and the Association for the Aid to Crippled Children, New York, N. Y.Requests for reprints should be addressed to Michael R. Swift, M.D., Department of Neurology, New York University Medical Center, 550 First Ave., New York, N. Y. 10016. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byTetraspanin CD9: A friend or foe of head and neck cancer (Review)Recommendations for pregnancy in Fanconi anemiaFanconi anemia pathway and its relationship with cancerTreatment of Tongue Cancer in Patient with Fanconi's AnemiaSquamous Cell Carcinoma Companionship With Fanconi Anemia: Rare Situation or Increasing Hazard?Additional Diseases Associated with Defective Responses to DNA DamageThe DysostosesSquamous cell carcinoma of base of tongue in a patient with Fanconi's anemia treated with radiation therapy: Case report and review of literatureThe role of the Fanconi anemia network in the response to DNA replication stressCytogenetics of Fanconi Anaemia and Related Chromosome DisordersFanconi AnaemiaFanconi Anaemia: Cellular Abnormalities and Clinical Predisposition to Malignant DiseaseFanconi anemia manifesting as a squamous cell carcinoma of the hard palate: a case reportGuido Fanconi (1892–1979): a jack of all tradesIntroduction of the American Pediatric Society's 2006 John Howland Award Recipient, Kurt Hirschhorn, M.D.Cancer in Fanconi anemia, 1927-2001In Vivo Selection of Wild-Type Hematopoietic Stem Cells in a Murine Model of Fanconi AnemiaIn Vivo Selection of Wild-Type Hematopoietic Stem Cells in a Murine Model of Fanconi AnemiaMOLECULAR BIOLOGY OF FANCONI ANEMIAMolecular Biology of Fanconi Anemia: Implications for Diagnosis and TherapyFanconi's anemia and malignanciesAssessment of the flexed-tail mouse as a possible model for Fanconi anemia: Analysis of mitomycin C-induced micronucleiHead and neck carcinoma in Fanconi's anaemia—report of a case and review of the literatureSquamous Cell Carcinoma of the Tongue in a Child with Fanconi Anemia: A Case Report and Review of the LiteratureGenotoxic effects of Mycobacterium leprae infection in humansFanconi's anaemia associated with multicentric Bowen's disease and decreased NK cytotoxicityFANCONI'S ANAEMIA AND ITS VARIABILITYBone marrow transplantation in fanconi's anemiaA child with xeroderma pigmentosum and bone marrow failureHematologic management of a patient with Fanconi's anemia undergoing bone grafting and implant surgeryFanconi's anaemia and pregnancyChromosomal Instability Syndromes in ManSquamous cell carcinoma of the tongue associated with fanconi's anemia: MR characteristicsDifferential sensitivity of peripheral blood lymphocytes of untreated leprosy patients to mitomycin CChromosome Instability SyndromesSquamous cell carcinoma of the esophagus in Fanconi's anemiaAutosomal und X-chromosomal recessiv vererbte Syndrome mit Hautbeteiligung, welche mit einer erhöhten Tumorincidenz einhergehenFanconi anemia, dyskeratosis congenita, and WT syndromeGenetic Diseases Associated with DNA and Chromosomal InstabilityCharacterization of a Simian virus 40-transformed Fanconi anemia fibroblast cell lineMitomycin C induced chromosome damage in fetal blood cultures and prenatal diagnosis of fanconi's anaemiaPrimary disorders of hyperpigmentationUnusual response to bifunctional alkylating agents in a case of Fanconi anaemiaThe association of Fanconi's anemia and squamous cell carcinomaAnemia de Fanconi: relato de dois casos na mesma famíliaRadiosensitivity in Fanconi anaemia: application to the conditioning regimen for bone marrow transplantationProliferative kinetics and mitomycin C-induced chromosome damage in Fanconi's anemia lymphocytesLoss of repairability of DNA interstrand crosslinks in Fanconi's anemia cells with culture ageMultiple squamous-cell carcinomas in fanconi's anemiaFlow cytometric characterization of the response of Fanconi's anemia cells to mitomycin C treatmentChapter 5. Prenatal Diagnosis of Inherited Metabolic Diseases: Principles, Pitfalls, and ProspectsPrenatal diagnosis of Fanconi anemiaCytogenetics and Granulopoietic Effects of Bone Marrow Fibroblastic Cells in Fanconi's AnaemiaAnalysis of Mutagen-induced Chromosome Damage in a Primate Species (Saguinus oedipus oedipus) at Risk for Spontaneous Adenocarcinoma of the ColonResponse of fanconi anemia fibroblasts to adenine and purine analoguesAbsence of chromosome heterogeneity between classical Fanconi's anemia and the Estren-Dameshek typeFanconi's anaemia; chromosome breakage in a large African familySquamous Cell Carcinoma of the Vulva and Fanconi AnemiaFanconi anemia. Oxymetholone hepatic tumors, and chromosome aberrations associated with leukemic transitionBone Marrow Transplantation in Fanconi AnaemiaThe effect of superoxide dismutase, catalase and l-cysteine on spontaneous and on mitomycin C induced chromosomal breakage in Fanconi's anemia and normal fibroblasts as measured by the micronucleus methodThe Prenatal Diagnosis of Chromosomal DisordersVascular and Hematologic DisordersHuman Diseases Associated with Defective DNA RepairInherited Aplastic Anaemia with Increased Endoreduplications: a New Syndrome or Fanconi's Anaemia Variant?TERMINAL DEOXYNUCLEOTIDYL TRANSFERASE IN FANCONI'S ANÆMIACIMETIDINE AND PHYTOBEZOARSAging and DNA-Repair CapabilityDistribution of chromosome breaks in measles, Fanconi's anemia and controlsFanconi anemia leading to acute myelomonocytic leukemia.Cytogenetic studiesLocalization of chromatid breaks in Fanconi's anemia, using three consecutive stainsSusceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogensChromosomal breaks in T and B lymphocytes in Fanconi's anemiaGrowth of cultured cells from patients with Fanconi anemiaFormal genetics of Fanconi's anemiaFanconi anemia: Simultaneous onset of symptoms in two siblingsImmunodepression and MalignancyFANCONI'S FAMILIAL HYPOPLASTIC ANAEMIA WITH SOME UNUSUAL FEATURESCytogenetic analysis of X-ray-induced chromosome aberrations in spontaneously leukaemic AKR miceGenetics of Tumor CellsSaccharin: Lack of chromosome-damaging activity in chinese hamsters in vivoDefective DNA repair in Fanconi's anaemiaAPLASTIC ANEMIA IN CHILDHOOD: III. CONSTITUTIONAL APLASTIC ANEMIA AND RELATED CYTOPENIASChromosomal Changes in Human Tumors and LeukemiasLSD-25 Effects on Chromosomes: A ReviewClinical Manifestations of Chromosome DisordersChromosome breakage in users of marihuanaCytogenetic studies in Fanconi's anemia. Description of a case with bone marrow clonal evolutionBloom's SyndromeCytogenetic Aspects of Brain DysfunctionFanconi's anaemia: report of a patient with significant chromosomal abnormalities in bone marrow cells.Down's syndrome with an atypical G-G translocation derived from familial pericentric inversion in one chromosome of the G group.Disorders of Bone Marrow ProductionCytogenetic findings in a parent of a patient with Fanconi's anemiaFurther studies on experimental benzene induced aplastic anemiaPKE-CANCER AND THE SKINInduced Chromosomal Aberrations in ManReferencesFanconi's Anemia: Clues to Early RecognitionChromosome studies in fanconi's anaemia before and after treatment with oxymetholoneChromosome studies in a "cancer family"Fanconi's anemia with growth hormone deficiencyPRIMARY POLYCYTHAEMIAHepatoma and Peliosis Hepatis Developing in a Patient with Fanconi's AnemiaSpontaneous and adenovirus type 12-induced chromosome aberrations in fanconi's anaemia fibroblastsLSD and Genetic DamageFanconi's Anaemia in the Genetics of NeoplasiaInduction and Analysis of Gene Mutations in Mammalian Cells in CultureCytogenetical and clinical investigations in aplastic anaemia (Fanconi's type)BIBLIOGRAPHYLSD-25 Effects on Chromosomes: A ReviewCHROMOSOME ABERRATIONS IN FANCONI ANAEMIANeigung zu Chromosomenbr�chen bei Russel-SyndromEffect of chlordiazepoxide hydrochloride on human chromosomesPreferential breakage of sensitive regions of human chromosomesRENAL ARTERY STENOSIS WITH HYPERTENSION IN FANCONI'S CYTOPENIATHE EFFECT OF IRRADIATED PLASMA ON NORMAL HUMAN CHROMOSOMES AND ITS RELEVANCE TO THE LONG-LIVED LYMPHOCYTE HYPOTHESISSkin, heredity, and cancerChromosomal 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.Some effects of diazepam in human cells in vitroFAMILIAL APLASTIC ANAEMIA WITHOUT CONGENITAL MALFORMATIONSChromosomal peculiarities and ?in vitro? examinations in Fanconi's anaemiaCytogenetische, immunologische und cytologische Familienuntersuchungen bei Bloom-SyndromViral transformation of cells from persons at high risk of cancerCHROMOSOME ABNORMALITIES IN ANEMIASCHROMOSOME ABNORMALITIES IN ANEMIASDRUG-INDUCED CHROMOSOMAL ABERRATIONSDRUG-INDUCED CHROMOSOMAL ABERRATIONSCytogenetics and GeneticsCOMPLEMENT DEFICIENCY AND CHROMOSOMAL BREAKS IN A CASE OF SWISS-TYPE AGAMMAGLOBULINÆMIAIn Vivo and in Vitro Chromosomal Damage Induced by LSD-25Nonpsychic Effects of Lysergic Acid DiethylamideKURT HIRSCHHORN, M.D., MAIMON M. COHEN, PH.D.EXTRA MINUTE CHROMOSOME IN CYCLOPSA MEDICAL STUDENT IN GENERAL PRACTICERESPONSIBILITY WITHOUT POWERICE-CREAM-VAN ACCIDENTSChromosomal Abnormalities in Congenital RubellaHistory of Cancer Genetics in ManChromosome breakage and blastic transformation of lymphocytes in ataxia-telangiectasiaCRYPTOCOCCUS NEOFORMANS IN BIRD DROPPINGSCHROMOSOME BREAKAGE AND LEUKÆMIAHEPATIC CIRRHOSIS AND DIABETES MELLITUSCHROMOSOME BREAKAGE AND LEUKÆMIASusceptibility of Human Diploid Fibroblast Strains to Transformation by SV40 Virus 1 September 1966Volume 65, Issue 3Page: 496-503KeywordsAnemiaChildrenChromosomesLeukemiaLongitudinal studiesLymphocytesMedical servicesNeurologyPathogenesisPatients ePublished: 1 December 2008 Issue Published: 1 September 1966 PDF downloadLoading ...