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      Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism

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      American Journal of Medical Genetics Part A

      Wiley

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          Trisomy 13 (Patau syndrome) with an 11-year survival.

          Trisomy 13 is very rare in live-born children. Only a small number of these children survive the first year and very few cases are reported to live longer. Survival time depends partly on the cytogenetic findings--full trisomy 13 or trisomy 13 mosaicism--and partly on the existence of serious somatic malformations. We report on a 11-year-old girl with full trisomy 13. In this case, missing cerebral and cardiovascular malformations probably allowed the long survival.
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            Author and article information

            Journal
            American Journal of Medical Genetics Part A
            Am. J. Med. Genet.
            Wiley
            15524825
            15524833
            August 01 2007
            August 01 2007
            2007
            : 143A
            : 15
            : 1739-1748
            Article
            10.1002/ajmg.a.31835
            © 2007
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