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  • Title: Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7.
    Author: Lopez-Rangel E, Hrynchak M, Friedman JM.
    Journal: Am J Med Genet; 1993 Sep 01; 47(3):326-9. PubMed ID: 8135275.
    Abstract:
    We describe a 6 1/2-year-old girl with the cardio-facio-cutaneous (CFC) syndrome. She presents with most of the characteristics of this condition: typical facial changes, congenital heart defect, slow growth, ectodermal dysplasia, and developmental delay. Chromosome analysis disclosed a 46,XX,inv(7)(q21.2q31.2) mat karyotype.
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