Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome

J Craniofac Genet Dev Biol. 1983;3(4):313-6.


A term female infant with intrauterine growth retardation and multiple congenital anomalies had trisomy 9 mosaicism in blood and skin fibroblast cultures. Anomalies typical of Goldenhar syndrome included an epibulbar dermoid, auricular malformation, hemifacial microsomia, vertebral anomalies, cardiac defects, pulmonary hypoplasia, renal hypoplasia, and limb defects. This case emphasizes the value of chromosomal evaluation of lateral asymmetry, the heterogenous etiology of Goldenhar syndrome, and the variable phenotypes produced by trisomy of large autosomes.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, 6-12 and X*
  • Female
  • Goldenhar Syndrome / genetics*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Lymphocytes / ultrastructure
  • Mandibulofacial Dysostosis / genetics*
  • Mosaicism*
  • Skin / ultrastructure
  • Trisomy*