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

T.A. Dabir, Patrick Morrison

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)

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 upslanting 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.
Original languageEnglish
Pages (from-to)25-27
Number of pages3
JournalCLINICAL DYSMORPHOLOGY
Volume15
Issue number1
Publication statusPublished - Jan 2006

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy

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