Abstract
We report a patient with trisomy 18 in all peripheral lymphocytes, mosaicism in cultured fibroblasts, mild nonspecific dysmorphic features, and normal intelligence. Trisomy 18 mosaicism with complete peripheral lymphocytic trisomy has not been previously described. The karyotype of lymphocytes is not diagnostic in the absence of congruent morphologic features.
MeSH terms
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Abnormalities, Multiple / genetics*
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Adolescent
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Cells, Cultured
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Chromosome Aberrations / epidemiology
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Chromosome Aberrations / genetics*
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Chromosome Aberrations / psychology
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Chromosome Disorders
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Chromosomes, Human, Pair 13*
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Female
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Fibroblasts / ultrastructure
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Heart Defects, Congenital / genetics*
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Humans
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Incidence
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Intelligence
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Lymphocytes / ultrastructure*
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Mosaicism*
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Phenotype
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Trisomy*