Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2).
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.
Hou
Jia-Woei
JW
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan 333, Taiwan. houjw741@cgmh.org.tw
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009666:Nose / Q000002:abnormalities*; D015619:Respiratory System Abnormalities; D014178:Translocation, Genetic