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Charles H. Dicken, MD; Gordon Dewald, PhD; Hymie Gordon, MD

Arch Dermatol. 1978;114(5):755-760.

Abstract
The importance of chromosome instability in Bloom's syndrome is reviewed, and the recently developed technique for demonstrating sister chromatid exchanges (SCE) is described. In Bloom's syndrome, but not in other heritable syndromes associated with chromosome instability, there is a nine- to ten-fold increase in the frequency of spontaneous SCE. We present a case of Bloom's syndrome in which this test facilitated the diagnosis. In four obligate heterozygotes (the parents of children with Bloom's syndrome), however, an increase in the frequency of spontaneous SCE was not observed.

(Arch Dermatol 114:755-760, 1978)

Author Affiliations
From the Departments of Dermatology (Dr Dicken) and Medical Genetics (Drs Dewald and Gordon), Mayo Clinic and Mayo Foundation, Rochester, Minn.

Footnotes
Accepted for publication June 20, 1977.

Reprint requests to Mayo Clinic, 200 First St SW, Rochester, MN 55901 (Dr Dicken).

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