Showing papers by "Arleen D. Auerbach published in 1989"

Fanconi Anemia : Clinical, Cytogenetic and Experimental Aspects

Abstract: I Clinical and Therapeutical Aspects.- International Fanconi Anemia Registry: First Report.- Fanconi Anemia in The Netherlands.- Clinical Aspects of a Cluster of 42 Patients in South Africa with Fanconi Anemia.- Therapeutic Aspects of Fanconi Anemia.- Bone Marrow Transplantation for Fanconi Anemia.- II Spontaneous and Induced Chromosomal Breakage for Diagnosis of Patients with Fanconi Anemia and Their Relatives.- Diepoxybutane Test for Prenatal and Postnatal Diagnosis of Fanconi Anemia.- Chromosomal Breakage in Response to Cross-linking Agents in the Diagnosis of Fanconi Anemia.- Cytogenetic Studies in Fanconi Anemia: Induced Chromosomal Breakage and Cytogenetics of Leukemia.- Aplastic Anemia and Fanconi Anemia: Response of Lymphocytes to X-Rays and Mitomycin C.- Variation in Cellular Sensitivities Among Fanconi Anemia Patients, Non-Fanconi Anemia-Patients, Their Parents and Siblings, and Control Probands.- Significance of Cellular Sensitivity in a Group of Parents of Fanconi Anemia Patients.- Chromosomal Studies in Fanconi Anemia Heterozygotes.- III Investigations of the Defect in Fanconi Anemia Cells.- BrdU-Hoechst Flow Cytometry Links the Cell Kinetic Defect of Fanconi Anemia to Oxygen Hypersensitivity.- Oxygen Metabolism and Chromosomal Breakage in Fanconi Anemia.- Cellular Effects of Fanconi Anemia Genes and Their Correction by Microinjection.- Phenotypic and Genetic Heterogeneity in Fanconi Anemia, Fate of Cross-Links, and Correction of the Defect by DNA Transfection.- IV Complementation Studies in Fanconi Anemia.- Complementation Studies in Fanconi Anemia.- Complementation and Gene Transfer Studies in Fanconi Anemia.- Complementation Studies in Fanconi Anemia Using Cell Fusion and Microinjection of mRNA.- V Fanconi Anemia: The Family's Point of View.- Fanconi Anemia: The Family's Point of View.

International Fanconi Anemia Registry: First Report

Abstract: Progress has been made in the elucidation of the basic mechanisms that underlie both developmental abnormalities and malignancy through careful studies of heritable diseases that predispose persons to these problems. Fanconi anemia (FA), ataxia-telangiectasia, xeroderma pigmentosum, and Bloom syndrome are a few examples of such rare disorders, which are of interest in their own right but have even more significance because of their relevance to cancer predisposition and the interaction of genetic and environmental factors in cancer risk. Registries for surveillance of cancers have been established for Bloom syndrome (German et al. 1984), ataxia-telangiectasia (Spector et al. 1978) and xeroderma pigmentosum (Lambert 1987). In order to study a large number of FA patients with the full spectrum of the diverse features of the disease, the International Fanconi Anemia Registry (IFAR) was established at The Rockefeller University in 1982. The registry serves as a central repository for clinical, hematologic, and genetic information on FA patients. The large clinical database generated by the IFAR and cellular material stored from IFAR patients and their families provide an important resource which should enable us to better define the disorder.

Dominantly transmitted hematologic dysfunction clinically similar to Fanconi's anemia.

Abstract: We report a family with a dominantly transmitted syndrome resembling Fanconi's anemia and spanning two generations. This syndrome was characterized by an ill-defined hematologic stem cell disorder, immune dysfunction, poor dentition, hyperpigmented skin, warts, and multiple second trimester spontaneous abortions and included one case of acute myelomonocytic leukemia (acute non-lymphocytic leukemia, M4). This family lacks the characteristic chromosomal aberrations of Fanconi's anemia. We believe this constellation of findings represents an entity not previously described.