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Ring chromosome 21 in phenotypically apparently normal persons: Report of two families from Switzerland and Italy


Schmid, Werner; Tenconi, Romano; Baccichetti, Carlo; Caufin, Daniele; Schinzel, Albert (1983). Ring chromosome 21 in phenotypically apparently normal persons: Report of two families from Switzerland and Italy. American Journal of Medical Genetics, 16(3):323-329.

Abstract

If a ring 21, originating from breaks close to the telomere of 21q and anywhere in 21p, replaces a normal 21, it may be associated with an apparently normal phenotype. An apparently normal mother and son were ascertained by a prenatal chromosome study. A second mother, with a ring 21 but without gross anomalies, is short of stature, has epilepsy, and has a low normal intelligence. Her daughter is a mosaic: 46, XX/47, XX, + r(21) and has the Down's syndrome. None of these four persons was found to have mitoses with more than one ring 21 or with rings of double size.

Abstract

If a ring 21, originating from breaks close to the telomere of 21q and anywhere in 21p, replaces a normal 21, it may be associated with an apparently normal phenotype. An apparently normal mother and son were ascertained by a prenatal chromosome study. A second mother, with a ring 21 but without gross anomalies, is short of stature, has epilepsy, and has a low normal intelligence. Her daughter is a mosaic: 46, XX/47, XX, + r(21) and has the Down's syndrome. None of these four persons was found to have mitoses with more than one ring 21 or with rings of double size.

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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:Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), chromosome 21, ring chromosome 21, deletion chromosome 21, chromosome aberration, familial, mosaic Down’s syndrome
Language:English
Date:1 November 1983
Deposited On:26 Jan 2023 14:06
Last Modified:28 Apr 2024 01:46
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0148-7299
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/ajmg.1320160305
PubMed ID:6228144