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  • Title: Cytogenetic study in a mentally retarded child with Bloom syndrome and acute lymphoblastic leukemia.
    Author: Werner-Favre C, Wyss M, Cabrol C, Félix F, Guenin R, Laufer D, Engel E.
    Journal: Am J Med Genet; 1984 Jun; 18(2):215-21. PubMed ID: 6589956.
    Abstract:
    Bloom syndrome (BS) was diagnosed in a 7-year-old boy during hospitalization for acute lymphoblastic leukemia (ALL). The patient had most of the signs of BS along with some atypical manifestations: absence of telangiectases, obesity, and moderate mental retardation. Results of the cytogenetic studies were fully consistent with the diagnosis of BS: the occurrence of quadriradial figures and a very high incidence of sister-chromatid exchanges (SCE). This child's ALL was of non-B, non-T type with the presence, at the time of diagnosis, of a marrow clone including two markers. A Yq - chromosome was detected in about 10% of PHA-stimulated lymphocytes but neither in bone marrow cells nor in skin fibroblasts. This case is the fifth instance of ALL out of 104 registered cases of BS.
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