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.
PRENATAL EXCLUSION OF PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY / E., Carapella De Luca; Stegagno, Michele; C., Dionisi Vici; Paesano, Rosalba; L. D., Fairbanks; G. S., Morris; H. A., Simmonds. - In: EUROPEAN JOURNAL OF PEDIATRICS. - ISSN 0340-6199. - STAMPA. - 145:1-2(1986), pp. 51-53.
PRENATAL EXCLUSION OF PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY
STEGAGNO, MICHELE;PAESANO, Rosalba;
1986
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
