منابع مشابه
Prenatal diagnosis of Wolman's disease.
Amniocentesis was performed in the 15th week of a pregnancy at risk for Wolman's disease. The cultured amniotic fluid cells were found to have a severe deficiency of acid esterase activity consistent with homozygosity of the fetus. The pregnancy was terminated in the 19th week and the prenatal diagnosis confirmed by enzymic and chemical evaluation of the fetal tissues.
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Congenital granular cell tumor (GCT) is a relatively rare intraoral benign tumor, approximately 200 cases of which have been reported in the neonatal period worldwide. The newborn infant may have feeding problems and respiratory difficulties due to airway obstruction. This lesion may be diagnosed by prenatal ultrasonography and simple resection is mostly required. We report a case of an adult t...
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Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...
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mutations in any of four known nadph-oxidase components lead to cgd. x-linked cgd (x-cgd) is caused by defects in cybb, the gene that encodes gp91-phox. autosomal recessive (ar) cgd is caused by defects in the genes for p47 phox, p22-phox or p67-phox. the aim of this study was to screen the molecular defect in the fetus of an x-cgd carrier mother and postnatal confirmation of the results. in a ...
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Niemann-Pick disease type C (NPC) was demonstrated in two successive pregnancies by strongly reduced activity of sphingomyelinase in amniotic fluid cells. By contrast, chorionic villi from the first pregnancy had shown normal sphingomyelinase activity. The prenatal diagnosis of NPC in the two fetuses was confirmed, after termination of the pregnancies, by (phospho)lipid analyses of the fetal li...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1976
ISSN: 1468-6244
DOI: 10.1136/jmg.13.1.49