[Trisomy 18 with unusual clinical and chromosome features].
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.
Bruni
L
L
Istituto di Clinica Pediatrica, Università degli Studi La Sapienza di Roma, Italia.
Tozzi
M C
MC
Colloridi
F
F
Lucchini
R
R
Vitolo
R
R
Ferri
M
M
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
Trisomia 18 con caratteristiche cliniche e cromosomiche inconsuete.