Lesch-Nyhan Mutation: Prenatal Detection with Amniotic Fluid Cells

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 e...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1969-06, Vol.164 (3885), p.1303-1305
Main Authors: DeMars, Robert, Sarto, Gloria, Felix, Jeanette S., Benke, Paul
Format: Article
Language:English
Subjects:
Amniocentesis
Amniotic fluid
Amniotic Fluid - cytology
Autoradiography
Cell nucleus
Culture Techniques
Cultured cells
Diseases in Twins - diagnosis
Embryonic cells
Epithelioid cells
Female
Fetal Diseases - diagnosis
Fetus
Gestational Age
Humans
Hypoxanthines - metabolism
Infant, Newborn
Infant, Newborn, Diseases - blood
Lesch Nyhan syndrome
Male
Metabolism, Inborn Errors - diagnosis
Metabolism, Inborn Errors - genetics
Microscopy, Phase-Contrast
Mutation
Neurons
Pregnancy
Sex chromatin
Sex Chromosome Aberrations - diagnosis
Transferases - analysis
Tritium
Uric Acid - blood
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Summary: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.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.164.3885.1303