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Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: Olfactory bulb aplasia and anosmia
Author(s) -
Gerber J.C.,
Neuhann T.M.,
Tyshchenko N.,
Smitka M.,
Hackmann K.
Publication year - 2011
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.34079
Subject(s) - anosmia , aplasia , subtelomere , hypoplasia , medicine , biology , anatomy , genetics , pathology , chromosome , gene , disease , covid-19 , infectious disease (medical specialty)
Subtelomeric deletions of chromosome 6q may result in a syndrome with brain malformations, comprising hydrocephalus and hypoplasia of the corpus callosum. Aplasia of the olfactory bulbs (OB) or anosmia has not been described in this syndrome. We describe a 3‐year‐old girl and a 25‐year‐old man with subtelomere 6q deletions. Both patients had aplastic OB and hydrocephalus. Subtelomeric 6q deletions might be underdiagnosed as anosmia can be the only symptom. © 2011 Wiley‐Liss, Inc.