Neuroradiology, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Germany.
Am J Med Genet A. 2011 Aug;155A(8):1981-6. doi: 10.1002/ajmg.a.34079. Epub 2011 Jul 8.
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.
6q 染色体亚端粒缺失可能导致一种伴有脑畸形的综合征，包括脑积水和胼胝体发育不全。在该综合征中未描述嗅球（OB）发育不全或嗅觉缺失。我们描述了一名 3 岁女孩和一名 25 岁男子患有 6q 亚端粒缺失。两名患者均有嗅球发育不全和脑积水。6q 亚端粒缺失可能被误诊为嗅觉缺失可能是唯一的症状。
