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Bloom's syndrome in a Japanese girl
Author(s) -
Kawashima Hiroko,
Sato Tamotu,
Taniguchi Noboru,
Yagl Takashi,
Ishizaki Kanzi,
Takere Hiraku
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00123.x
Subject(s) - sister chromatids , antibody , girl , peripheral blood , erythema , immunofluorescence , medicine , biology , in vitro , immunology , endocrinology , genetics , gene , chromosome
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.