Article

Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: olfactory bulb aplasia and anosmia.

Neuroradiology, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Germany.
American Journal of Medical Genetics Part A (impact factor: 2.39). 08/2011; 155A(8):1981-6. DOI:10.1002/ajmg.a.34079 pp.1981-6
Source: PubMed

ABSTRACT 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.

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Keywords

25-year-old man
 
Aplasia
 
brain malformations
 
corpus callosum
 
hypoplasia
 
OB
 
subtelomere 6q deletions