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X chromosome-linked mental retardation with fragile X chromosome and macro-orchidism


Zollinger, A; Schmid, Werner; Vilan, J; Sorger, Bettina; Knoblauch, M (1983). X chromosome-linked mental retardation with fragile X chromosome and macro-orchidism. Swiss Medical Weekly, 113(7):238-44.

Abstract

Description of the first Swiss family with the new syndrome of X-linked mental retardation. The three brothers described are the first of all males traced back for four generations to be affected. In two of the brothers macroorchidism and the fragile X-chromosome were demonstrated, while the third brother died before diagnosis. As expected, the fragile X was not demonstrable in the 75-year-old mother of the three brothers.

Abstract

Description of the first Swiss family with the new syndrome of X-linked mental retardation. The three brothers described are the first of all males traced back for four generations to be affected. In two of the brothers macroorchidism and the fragile X-chromosome were demonstrated, while the third brother died before diagnosis. As expected, the fragile X was not demonstrable in the 75-year-old mother of the three brothers.

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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 > General Medicine
Language:German
Date:19 February 1983
Deposited On:29 Jan 2023 06:39
Last Modified:28 Apr 2024 01:47
Publisher:EMH Swiss Medical Publishers
ISSN:0036-7672
OA Status:Closed
PubMed ID:6836249
Other Identification Number:Corpus ID: 31112294
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