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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Cytogenetic study in a mentally retarded child with Bloom syndrome and acute lymphoblastic leukemia.

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.[1]

References

  1. Cytogenetic study in a mentally retarded child with Bloom syndrome and acute lymphoblastic leukemia. Werner-Favre, C., Wyss, M., Cabrol, C., Félix, F., Guenin, R., Laufer, D., Engel, E. Am. J. Med. Genet. (1984) [Pubmed]
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