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Am J Med Genet A. 2004 Oct 1;130A(2):200-3.

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

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1
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan 333, Taiwan. houjw741@cgmh.org.tw

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.

PMID:
15372519
DOI:
10.1002/ajmg.a.30268
[Indexed for MEDLINE]
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