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Ring chromosome 13 in a polymalformed anencephalic


Schmid, Werner; Mühlethaler, J P; Briner, J; Knechtli, H (1975). Ring chromosome 13 in a polymalformed anencephalic. Human Genetics, 27(1):63-66.

Abstract

In the 33rd week of pregnancy an amniocentesis was performed because of low estriol. X-ray indicated the presence of anencephaly and a premature delivery was induced. Necropsy, in addition to anencephaly, showed a wide variety of malformations. The fetal karyotype determined from cultured amniotic fluid cells revealed a ring chromosome 13.

Abstract

In the 33rd week of pregnancy an amniocentesis was performed because of low estriol. X-ray indicated the presence of anencephaly and a premature delivery was induced. Necropsy, in addition to anencephaly, showed a wide variety of malformations. The fetal karyotype determined from cultured amniotic fluid cells revealed a ring chromosome 13.

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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:General Medicine, Internal Medicine, Metabolic Disease, Amniotic Fluid, Estriol, Fluid Cell
Language:English
Date:1 March 1975
Deposited On:27 Jan 2023 12:32
Last Modified:28 Apr 2024 01:47
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00283507
PubMed ID:1140815
Other Identification Number:Corpus ID: 22351658