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  • Title: Report of a new case and clinical delineation of mosaic trisomy 9 syndrome.
    Author: Sánchez JM, Fijtman N, Migliorini AM.
    Journal: J Med Genet; 1982 Oct; 19(5):384-7. PubMed ID: 7143394.
    Abstract:
    A newborn girl with trisomy 9 mosaicism is reported. Clinical findings included major malformations: bilateral hip dislocation, dislocation of the left knee, extreme micrognathia, and microsomy. Up to date, 11 liveborn infants with trisomy 9 have been reported, which allows us to make a karyotype/phenotype correlation. Minimal clinical diagnostic criteria are defined, on the basis of which the presence of this syndrome can be suspected.
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