Back to Search
Start Over
Sister chromatid exchanges in Bloom's syndrome.
- Source :
-
Archives of dermatology [Arch Dermatol] 1978 May; Vol. 114 (5), pp. 755-60. - Publication Year :
- 1978
-
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.
- Subjects :
- Abnormalities, Multiple genetics
Adult
Bromodeoxyuridine analysis
Child
Child, Preschool
Erythema complications
Female
Genetic Techniques
Growth Disorders complications
Humans
Infant
Infant, Newborn
Male
Middle Aged
Neoplasms complications
Photosensitivity Disorders complications
Pregnancy
Syndrome
Chromatids ultrastructure
Facial Dermatoses genetics
Telangiectasis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0003-987X
- Volume :
- 114
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Archives of dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 348117