Bloom's syndrome: a probable new case with cytogenetic findings.

Bourgeois, Claire A.; Calverley, Marie H.; Forman, Lisa; Polani, P. E.

doi:10.1136/jmg.12.4.423

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1976

1986

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Cited by 4 publications

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“…The percentage of cells with chromosomal aberrations was 20.6 in the patients and 5.4 in their parents. These figures agree with those found by others in Bloom's syndrome patients and controls (Schroeder Bourgeois et al 1975). We should mention, however, that our percentages of chromosomal aberrations were determined in lymphocytes grown in BrdUcontaining media.…”

Section: Discussionsupporting

confidence: 93%

Bloom's syndrome in two Dutch families

et al. 1977

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The clinical and cytogenetic data are presented of four children with Bloom's syndrome, who belong to two unrelated Dutch families. The patients showed, in varying degrees, the clinical features most characteristic of the syndrome: stunted growth; telangiectatic facial erythema; sun‐sensitivity of the skin; and decreased immuno‐competence. In one child the skin lesions were only minor and the diagnosis would probably not have been made if her sib had not been recognized as having Bloom's syndrome. The cytogenetic characteristics of the syndrome were present in all patients. Each showed a high number of chromosomal aberrations and numerous sister‐chromatid exchanges per cell.

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Section: Discussionsupporting

confidence: 93%