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  • Title: Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2).
    Author: Hou JW.
    Journal: Am J Med Genet A; 2004 Oct 01; 130A(2):200-3. PubMed ID: 15372519.
    Abstract:
    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.
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