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Medical Journal of the Islamic Republic of Iran. 1991; 5 (1-2): 63-66
in English | IMEMR | ID: emr-20943

ABSTRACT

Bloom's syndrome is a rare autosomal recessive syndrome characterized by telangiectatic erythema of face and back of the hands, short stature, distinctive facies, abnormal immune response, and predisposition to malignancy, especially leukemia. Chromosomal abnormalities are hallmarks of the disorder and a high frequency of sister chromatid exchanges and quadriradial configurations in lymphocytes are virtually diagnostic. Approximately 110 cases have been reported throughout the world up to 1983


Subject(s)
Bloom Syndrome/diagnosis , Genetic Diseases, Inborn , Leukemia/etiology , Chromosome Aberrations
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