منابع مشابه
Prenatal exclusion of Norrie's disease.
We report on the use of DNA marker probes and linkage analysis to exclude Norrie's disease in the male fetus of a high risk carrier. There are no clinical markers in females carrying the Norrie's disease gene; thus DNA linkage analysis is an essential technique in the management of families 'at-risk' for this severe ophthalmic disease. The principles of DNA linkage are discussed.
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Pompe disease is a lysosomal storage disorder caused by alpha-glucosidase deficiency. The disease is characterized by accumulation of glycogen in the lysosomes. The accumulation has unique ultrastructural features which enable a prenatal diagnosis by electron microscopy. We describe prenatal electron microscopic testing in a fetus of a mother whose previous child died of Pompe disease. The dise...
متن کاملEvaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.
Individuals at 50% risk of Huntington's disease (HD) who prefer not to know their carrier status, might opt for exclusion prenatal diagnosis (ePND) or exclusion preimplantation genetic diagnosis (ePGD). This study aims to provide a better understanding of couples' motives for choosing ePND or ePND, and surveys couples' experiences in order to make recommendations for the improvement of counsell...
متن کاملPrenatal exclusion testing for Huntington's disease: a problem of too much information.
At eight weeks of pregnancy a couple were informed that the prospective father's mother had died of Huntington's disease (HD). There were no living affected members in the immediate family to confirm the diagnosis. By inspection of the local genetic register, it was established that it was indeed HD segregating in the extended family. Genotyping of the prospective mother and father, the father'...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1992
ISSN: 0007-1161
DOI: 10.1136/bjo.76.8.491