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Tandem duplication q14 and dicentric formation by end-to-end chromosome fusions in ataxia telangiectasia (AT)


Hayashi, K; Schmid, Werner (1975). Tandem duplication q14 and dicentric formation by end-to-end chromosome fusions in ataxia telangiectasia (AT). Human Genetics, 30(2):135-141.

Abstract

Chromosome studies on lymphocyte cultures were performed in 5 patients with AT, 2 of whom had been followed for 4 years. Four out of these patients showed an increased incidence of chromosome-type aberrations. A clonal development was present in one patient, 96% of his metaphases containing a tandem duplication of almost the entire long arm 14. Four years earlier the proportion of these cells was 80%. Two other patients presented a small proportion of cells with an unidentified abnormally long D chromosome. In a total of 724 metaphases from 4 patients 31 dicentric chromosomes were observed, all of a peculiar type: in their formation no chromosome material was lost and they all seem to have arisen by end-to-end fusions. The incidence of chromatid-type aberrations was normal or at the upper limit of control values in all 5 cases. The sister chromatid exchange rate studied with BUDR in 3 patients was found to be normal.

Abstract

Chromosome studies on lymphocyte cultures were performed in 5 patients with AT, 2 of whom had been followed for 4 years. Four out of these patients showed an increased incidence of chromosome-type aberrations. A clonal development was present in one patient, 96% of his metaphases containing a tandem duplication of almost the entire long arm 14. Four years earlier the proportion of these cells was 80%. Two other patients presented a small proportion of cells with an unidentified abnormally long D chromosome. In a total of 724 metaphases from 4 patients 31 dicentric chromosomes were observed, all of a peculiar type: in their formation no chromosome material was lost and they all seem to have arisen by end-to-end fusions. The incidence of chromatid-type aberrations was normal or at the upper limit of control values in all 5 cases. The sister chromatid exchange rate studied with BUDR in 3 patients was found to be normal.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Exchange Rate, Metabolic Disease, Small Proportion, Sister Chromatid, Tandem Duplication
Language:English
Date:1 January 1975
Deposited On:27 Jan 2023 12:36
Last Modified:28 Apr 2024 01:47
Publisher:Springer
ISSN:0340-6717
Additional Information:Prof. Dr. med. Werner Schmid (Director of the institute till 1996)
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00291946
PubMed ID:1193600
Other Identification Number:Corpus ID: 45833571