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  • Title: [Trisomy 18 with unusual clinical and chromosome features].
    Author: Bruni L, Tozzi MC, Colloridi F, Lucchini R, Vitolo R, Ferri M.
    Journal: Pediatr Med Chir; 1995; 17(1):85-7. PubMed ID: 7739936.
    Abstract:
    The Authors describe a newborn with costal hypoplasia and vertebral malformation, tracheoesophageal fistula, congenital heart disease and closed hands with the second and third finger overlapping. Cytogenetic findings indicated trisomy 18 [47, XX, -1, +der(1), +der(18), t(1;18) (q1.2; p11.3)] inherited by mother's carried balanced translocation 1q/18.
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