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Clin Genet. 1997 Jun;51(6):403-7.

Three cases of trisomy 13 mosaicism and a review of the literature.

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  • 1Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.


We describe three cases of trisomy 13 mosaicism and review the literature. The phenotype ranges from a severe form similar to Patau syndrome, through to physical and mental normality. This range presumably reflects the proportion and tissue distribution of the trisomic cell line. The percentage of trisomic cells in lymphocytes correlates poorly with the observed phenotype.

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