title: [Trisomy 18 with unusual clinical and chromosome features].
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.
authors.affiliation: Istituto di Clinica Pediatrica, Università degli Studi La Sapienza di Roma, Italia.
authors.forename: L
authors.initials: L
authors.lastname: Bruni
authors.forename: M C
authors.initials: MC
authors.lastname: Tozzi
authors.forename: F
authors.initials: F
authors.lastname: Colloridi
authors.forename: R
authors.initials: R
authors.lastname: Lucchini
authors.forename: R
authors.initials: R
authors.lastname: Vitolo
authors.forename: M
authors.initials: M
authors.lastname: Ferri
mesh_terms: D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D003582:Cytogenetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006228:Hand Deformities, Congenital; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D014138:Tracheoesophageal Fistula / Q000151:congenital; D014178:Translocation, Genetic; D014314:Trisomy
vernacular_title: Trisomia 18 con caratteristiche cliniche e cromosomiche inconsuete.