[Trisomy 18 with unusual clinical and chromosome features]. / Trisomia 18 con caratteristiche cliniche e cromosomiche inconsuete.

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.