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Science 13 June 1969:
Vol. 164. no. 3885, pp. 1303 - 1305
DOI: 10.1126/science.164.3885.1303
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Articles

Lesch-Nyhan Mutation: Prenatal Detection with Amniotic Fluid Cells

Robert Demars 1, Gloria Sarto 2, Jeanette S. Felix 3, and Paul Benke 3

1 Department of Medical Genetics, University of Wisconsin, Madison 53706
2 Department of Obstetrics and Gynecology, University Wisconsin
3 Departments of Pediatrics and Oncology, University of Wisconsin

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.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
An Approach to the Control of PRT Deficiency Through Antenatal Diagnosis.
W. Y. Fujimoto (1972)
Arch Intern Med 130, 207-211
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Sebaceous Gland Papules in Anhidrotic Ectodermal Dysplasia.
S. I. Katz and N. S. Penneys (1971)
Arch Dermatol 103, 507-509
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Lesch-Nyhan Syndrome: Preventive Control by Prenatal Diagnosis.
J. A. Boyle, K. O. Raivio, K. H. Astrin, J. D. Schulman, M. L. Graf, J. E. Seegmiller, and C. B. Jacobsen (1970)
Science 169, 688-689
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Diagnosis of Lesch-Nyhan Syndrome by Direct Study of Skin Specimens.
P. Frost, G. D. Weinstein, and W. L. Nyhan (1970)
JAMA 212, 316-318
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