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

Am J Med Genet A. 2011 Aug;155A(8):1981-6. doi: 10.1002/ajmg.a.34079. Epub 2011 Jul 8.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adult
  • Agenesis of Corpus Callosum
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 6 / genetics*
  • Female
  • Humans
  • Hydrocephalus / diagnosis
  • Hydrocephalus / genetics
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Olfaction Disorders / diagnosis
  • Olfaction Disorders / genetics*
  • Olfactory Bulb / abnormalities*
  • Syndrome