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Ann Genet. 1991;34(3-4):179-97.

Bloom's syndrome: the German experience.

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  • 1Institut für Humangenetik, Universitätsklinikum Essen, Germany.


Ten patients with Bloom's syndrome observed in Germany during the last 20 years are described. They were born between 1964 and 1986. Seven are alive at the age of 8 to 27 years. Three have died at the age of 5 years (acute leukemia), 18 years (pulmonary fibrosis and bronchiectasis), and 21 years (Hodgkin lymphoma and subsequently leukemia). All show the characteristic clinical and cellular phenotype. In addition to the known early occurrence of malignancies, certain behavioral patterns, the occurrence of hyper- and hypopigmented areas in the skin, pulmonary manifestations, and exquisite sensitivity to chemotherapy and probably also to radiotherapy are emphasized. The potential usefulness of bone marrow preservation for later use in autologous transplantation has not yet been determined. Several features of Bloom's syndrome can be understood on the basis of a genetically determined high rate of somatic recombination.

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