Prenatal diagnosis of neuronal ceroid-lipofuscinoses

P. M. MacLeod, C. L. Dolman, Robert Nickel, E. Chang, S. Nag, Jonathan (Jon) Zonana, K. Silvey

Research output: Contribution to journalArticle

33 Citations (Scopus)

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 - 1985
Externally publishedYes

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Neuronal Ceroid-Lipofuscinoses
Prenatal Diagnosis
Amniotic Fluid
Fetus
Electrons
Biopsy
Pregnancy
Skin
Membranes
Ceroid Lipofuscinosis, Neuronal, 6

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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

Prenatal diagnosis of neuronal ceroid-lipofuscinoses. / MacLeod, P. M.; Dolman, C. L.; Nickel, Robert; Chang, E.; Nag, S.; Zonana, Jonathan (Jon); Silvey, K.

In: American Journal of Medical Genetics, Vol. 22, No. 4, 1985, p. 781-789.

Research output: Contribution to journalArticle

MacLeod, PM, Dolman, CL, Nickel, R, Chang, E, Nag, S, Zonana, JJ & Silvey, K 1985, 'Prenatal diagnosis of neuronal ceroid-lipofuscinoses', American Journal of Medical Genetics, vol. 22, no. 4, pp. 781-789. https://doi.org/10.1002/ajmg.1320220413
MacLeod, P. M. ; Dolman, C. L. ; Nickel, Robert ; Chang, E. ; Nag, S. ; Zonana, Jonathan (Jon) ; Silvey, K. / Prenatal diagnosis of neuronal ceroid-lipofuscinoses. In: American Journal of Medical Genetics. 1985 ; Vol. 22, No. 4. pp. 781-789.
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