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  • Title: Prenatal diagnosis of Chediak-Higashi syndrome in the cat by evaluation of cultured chorionic cells.
    Author: Kahraman MM, Prieur DJ.
    Journal: Am J Med Genet; 1991 Sep 01; 40(3):311-5. PubMed ID: 1951435.
    Abstract:
    The autosomal recessive disease Chediak-Higashi syndrome (CHS) is a progressive and generally fatal disease of humans. The underlying genetic defect in CHS is unknown and prenatal diagnostic methods have not been applied to this disease. The purpose of this study was to determine if CHS chorionic cells expressed a characteristic of CHS--enlarged lysosomes--that would permit the prenatal diagnosis of the disease. Cats with CHS, which have been shown to be homologous with human CHS, were used as the model system in this study. Chorionic tissue samples were obtained from CHS and control cat fetuses and cultures of cells were established. Acid phosphatase was utilized as a marker of lysosomes and cultures of chorionic fibroblasts from CHS and control fetuses were stained histochemically for acid phosphatase. The diameter of the largest lysosomes in 150 cells of each fetus was determined. The mean (+/- SD) diameter (in microns) of the largest lysosomes of normal fetuses was 0.9 +/- 0.13 (range 0.5-7.0 microns), whereas the mean diameter of lysosomes in CHS chorionic cells was 3.9 +/- 0.65 microns (range 0.5-25 microns). These means were significantly different (P less than 0.0001). These data suggest that it should be possible to diagnose human CHS in the first trimester by chorionic villus sampling.
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