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Spontaneous fragility of an abnormally wide secondary constriction region in a human chromosome No. 9


Schmid, Werner; Vischer, D (1969). Spontaneous fragility of an abnormally wide secondary constriction region in a human chromosome No. 9. Human Genetics, 7(1):22-27.

Abstract

In an infant with clinically and cytologically typical DOWN'S syndrome a chromosome No. 9 was found exhibiting an exceptionally large paracentric constriction which proved to be spontaneously fragile. In cells in which this chromosome was broken the centric portion was present whereas the acentric fragment was absent. A No. 9 chromosome with identical morphology was found in the karyotype of the father but no fragility was evident. Autoradiography revealed pronounced late replication in the constriction region, suggesting a duplication or insertion of heterochromatic material. Clinically there was no evidence for any phenotypic expression of this cytological anomaly.

Abstract

In an infant with clinically and cytologically typical DOWN'S syndrome a chromosome No. 9 was found exhibiting an exceptionally large paracentric constriction which proved to be spontaneously fragile. In cells in which this chromosome was broken the centric portion was present whereas the acentric fragment was absent. A No. 9 chromosome with identical morphology was found in the karyotype of the father but no fragility was evident. Autoradiography revealed pronounced late replication in the constriction region, suggesting a duplication or insertion of heterochromatic material. Clinically there was no evidence for any phenotypic expression of this cytological anomaly.

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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, Internal Medicine, Metabolic Disease, Human Chromosome, Centric Portion, Phenotypic Expression
Language:English
Date:1 January 1969
Deposited On:27 Jan 2023 13:36
Last Modified:28 Apr 2024 01:47
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00278689
PubMed ID:4238957
Other Identification Number:Corpus ID: 1379908