Abstract
We report on the successful prenatal diagnosis of the late infantile 'Jansky-Bielschowsky' variant of the neuronal ceroid-lipofuscinoses (NCL). The fetus was studied at 16 weeks of gestation because of an affected sib. Uncultured amniotic fluid cells were studied by conventional electron microscopic techniques. About one-third of a subpopulation of dark, elongated cells contained one or more deposits or curvilinear cytosomes bound by a single unit membrane. These findings were considered typical of the late infantile variant of NCL. After delivery at term, a skin punch biopsy and a buffy coat preparation from the baby were examined and found to have similar characteristic inclusions, which confirmed our prenatal diagnosis.
Original language | English (US) |
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Pages (from-to) | 781-789 |
Number of pages | 9 |
Journal | American Journal of Medical Genetics |
Volume | 22 |
Issue number | 4 |
DOIs | |
State | Published - 1985 |
ASJC Scopus subject areas
- Genetics(clinical)