Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case report

Clin Dysmorphol. 2006 Jan;15(1):25-27. doi: 10.1097/01.mcd.0000181606.63005.50.

Abstract

We report a male child born with complete absence of his external ear, hemifacial microsomia of the right side, high arched palate, a down-turned upper lip and slightly up-slanting palpebral fissures. The features were suggestive of facio-auriculo-vertebral spectrum. Investigations showed a tandem duplication of the short arm of one chromosome 10 with apparent breakpoints at p14 and p15. This case extends the list of chromosomal abnormalities associated with the facio-auriculo-vertebral phenotype and also adds useful clinical information to possible trisomy 10p phenotypes.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Breakage / genetics*
  • Chromosomes, Human, Pair 10 / genetics*
  • Craniofacial Abnormalities / metabolism*
  • Craniofacial Abnormalities / pathology
  • Follow-Up Studies
  • Humans
  • Infant
  • Male
  • Trisomy / genetics*