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. 1982 Jul;34(4):611–622.

Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.

G H Thomas, C S Miller, K E Toomey, L W Reynolds, M L Reitman, A Varki, A Vannier, K N Rosebaum, W B Bias, B H Schofield
PMCID: PMC1685367  PMID: 6125101

Abstract

Cultured fibroblasts from a 46,XY male with an atypical form of mucolipidosis II (I-cell disease) had two distinct phenotypes. One population of these fibroblasts had the morphological and biochemical features characteristic of I-cell disease, while the remaining cells were indistinguishable from normal fibroblasts. Direct evidence that the patient was a mosaic, having two cell populations, was provided by the establishment of pure, stable clones of both wild type and I-cell fibroblasts from each of two biopsies obtained several months apart. Additionally, it was shown that the I-cell fibroblasts lacked UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosaminylphosphotransferase while the morphologically normal cells contained levels of this enzyme just below or at the lower end of the normal range.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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