Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)

Am J Med Genet A. 2004 Oct 1;130A(2):200-3. doi: 10.1002/ajmg.a.30268.


A female newborn suffering from congenital arhinia with complete airway obstruction is reported. In addition, she had hypertelorism, microphthalmia, high-arched palate, and hypoplasia of the auditory canal and mastoid and facial bones, along with the absence of olfactory bulbs and tracts. She had a de novo reciprocal translocation between chromosomes 3q13.2 and 12p11.2. Certain gene(s) located at either of the breakpoints, 3q13.2 and 12p11.2, may be involved in the pathogenesis of her arhinia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Chromosome Banding
  • Chromosomes, Human, Pair 12 / genetics*
  • Chromosomes, Human, Pair 3 / genetics*
  • Facial Bones / abnormalities
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Nose / abnormalities*
  • Respiratory System Abnormalities
  • Translocation, Genetic*