Ring chromosome 13 in a polymalformed anencephalic.

Humangenetik ·Vol. 27 ·No. 1 ·1975-00-00 ·Pages 63-6

Schmid W, Mühlethaler JP, Briner J, Knechtli H

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.

MeSH Terms

Abnormalities, Multiple/genetics Amniocentesis Anencephaly/diagnosis,genetics Chromosome Aberrations Chromosomes, Human, 13-15 Female Humans Karyotyping Pregnancy

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Schmid W

Mühlethaler J P

Briner J

Knechtli H

References (3)

3 references, click to expand

Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques.
J Med Genet. 1972 Mar;9(1):1-7 PMID: 4112567
Craniorachischisis in a partially trisomic 11 fetus in a family with reproductive failure and a reciprocal translocation, t(6p plus;11q minus).
J Med Genet. 1974 Mar;11(1):69-75 PMID: 4134620
Ring chromosome D (13) associated with multiple congenital malformations.
Ann Genet. 1973 Sep;16(3):157-66 PMID: 4543204

Article Info

Journal

Humangenetik

Abbr.

Humangenetik

ISSN

0018-7348

DOI

10.1007/BF00283507

Published

1975-00-00

Pages

63-6

Language

English

Region

Germany

NLM ID

7607154

Subset

External Links

PubMed source DOI: 10.1007/BF00283507

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Ring chromosome 13 in a polymalformed anencephalic.

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