Prenatal diagnosis of neuronal ceroid-lipofuscinoses

P. M. MacLeod, C. L. Dolman, R. E. Nickel, E. Chang, S. Nag, J. Zonana, K. Silvey

Research output: Contribution to journalArticle

33 Scopus citations

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 languageEnglish (US)
Pages (from-to)781-789
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume22
Issue number4
DOIs
StatePublished - Dec 1 1985

    Fingerprint

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

MacLeod, P. M., Dolman, C. L., Nickel, R. E., Chang, E., Nag, S., Zonana, J., & Silvey, K. (1985). Prenatal diagnosis of neuronal ceroid-lipofuscinoses. American Journal of Medical Genetics, 22(4), 781-789. https://doi.org/10.1002/ajmg.1320220413