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Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)
Author(s) -
Hou JiaWoei
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30268
Subject(s) - microphthalmia , hypertelorism , hypoplasia , chromosomal translocation , anatomy , biology , genetics , medicine , breakpoint , gene
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. © 2004 Wiley‐Liss, Inc.