Bloom's syndrome in a Japanese girl
- 1 February 1980
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 17 (2) , 143-148
- https://doi.org/10.1111/j.1399-0004.1980.tb00123.x
Abstract
Clinical, cytogenetic, and immunological data of a 5‐year‐old Japanese girl with Bloom's syndrome are described. Growth deficiency, photosensitivity, and a very mild facial telangiectatic erythema were present. Cytological studies revealed chromosomal aberrations and the characteristic high frequency in sister chromatid exchanges. Immunological studies showed that the serum levels of IgM and IgA, but not IgG, were abnormally low as compared to the agematched control values and that the generation of cytoplasmic immunoglobulin‐producing cells in the peripheral blood lymphocytes, which was evaluated in the in vitro pokeweed mitogen‐stimulated cultures, was markedly reduced.Keywords
This publication has 9 references indexed in Scilit:
- Bloom's Syndrome. VII. Progress report for 1978Clinical Genetics, 2008
- Suppressor Activity of T Lymphocytes from Infants Assessed by Co-Culture with Unfractionated Adult Lymphocytes in the Pokeweed Mitogen SystemThe Journal of Immunology, 1979
- Immune responses in four patients with Bloom syndromeClinical Immunology and Immunopathology, 1979
- Bloom's syndrome. V. Surveillance for cancer in affected familiesClinical Genetics, 1977
- BLOOMS SYNDROME .4. SISTER-CHROMATID EXCHANGES IN LYMPHOCYTES1977
- Abnormal immune responses of Bloom's syndrome lymphocytes in vitro.Journal of Clinical Investigation, 1975
- A Manyfold Increase in Sister Chromatid Exchanges in Bloom's Syndrome LymphocytesProceedings of the National Academy of Sciences, 1974
- Bloom's syndrome and Fanconi's anemia: Demonstration of two distinctive patterns of chromosome disruption and rearrangementPublished by Springer Nature ,1974
- The syndrome of congenital telangiectaticerythema and stunted growthThe Journal of Pediatrics, 1966