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Prenatal exclusion of purine nucleoside phosphorylase deficiency

โœ Scribed by E. Carapella Luca; M. Stegagno; C. Dionisi Vici; R. Paesano; L. D. Fairbanks; G. S. Morris; H. A. Simmonds

Book ID
104775394
Publisher
Springer
Year
1986
Tongue
English
Weight
261 KB
Volume
145
Category
Article
ISSN
0340-6997

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โœฆ Synopsis

We report on the prenatal exclusion of purine nucleoside phosphorylase (PNP) deficiency in a fetus whose parents were known to be heterozygotes for the enzyme defect. Prenatal investigation was performed in the 16th week of gestation on amniotic fluid and cultured amnion cells using sensitive techniques. The results suggested that the fetus was either normal or a heterozygote. PNP activity in cord red cells confirmed the heterozygous status of the baby.

๐Ÿ“œ SIMILAR VOLUMES

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