Document Detail

Bloom's syndrome: the German experience.
MedLine Citation:
PMID:  1809225     Owner:  NLM     Status:  MEDLINE    
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.
E Passarge
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annales de génétique     Volume:  34     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:  1991  
Date Detail:
Created Date:  1992-05-21     Completed Date:  1992-05-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  179-97     Citation Subset:  IM    
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
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MeSH Terms
Bloom Syndrome / genetics*
Child, Preschool
Germany / epidemiology
Longitudinal Studies

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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