Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells.

Science (New York, N.Y.) ·Vol. 164 ·No. 3885 ·1969-06-13 ·Pages 1303-5

DeMars R, Sarto G, Felix JS, Benke P

Abstract

Cells cultured from the amniotic fluid of a 22-week fetus in a heterozygote for the X-linked Lesch-Nyhan mutation, which results in neurological and developmental disorders, lacked sex chromatin and were unable to incorporate hypoxanthine. The diagnosis of a mutant male was confirmed upon birth of enzyme-deficient, hyperuricemic twin boys whose amniotic membrane cells failed to incorporate hypoxanthine.

MeSH Terms

Amniotic Fluid/cytology Autoradiography Culture Techniques Diseases in Twins/diagnosis Female Fetal Diseases/diagnosis Gestational Age Humans Hypoxanthines/metabolism Infant, Newborn Infant, Newborn, Diseases/blood Male Metabolism, Inborn Errors/diagnosis,genetics Microscopy, Phase-Contrast Mutation Pregnancy Sex Chromosome Aberrations/diagnosis Transferases/analysis Tritium Uric Acid/blood

Chemicals

Hypoxanthines Tritium Uric Acid Transferases

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

DeMars R

Sarto G

Felix J S

Benke P

Article Info

Journal

Science (New York, N.Y.)

Abbr.

Science

ISSN

0036-8075

DOI

10.1126/science.164.3885.1303

Published

1969-06-13

Pages

1303-5

Language

English

Region

United States

NLM ID

0404511

Subset

External Links

PubMed source DOI: 10.1126/science.164.3885.1303 View journal details

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Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells.

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