[Trisomy 18 with unusual clinical and chromosome features]

Pediatr Med Chir. 1995 Jan-Feb;17(1):85-7.
[Article in Italian]

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple*
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 18*
  • Cytogenetics
  • Female
  • Fingers / abnormalities
  • Hand Deformities, Congenital*
  • Heart Defects, Congenital*
  • Humans
  • Infant, Newborn
  • Pedigree
  • Ribs / abnormalities*
  • Spine / abnormalities*
  • Tracheoesophageal Fistula / congenital
  • Translocation, Genetic
  • Trisomy*