一个患有小角膜-白内障综合征的罕见家系。
An unusual pedigree with microcornea-cataract syndrome.
作者信息
Stefaniak E, Zaremba J, Cieślińska I, Kropińska E
机构信息
Ophthalmological Department, Medical School, Bydgoszcz, Poland.
出版信息
J Med Genet. 1995 Oct;32(10):813-5. doi: 10.1136/jmg.32.10.813.
Abstract
A pedigree with 14 patients affected with microcornea-cataract (MC) syndrome is described. MC syndrome is very rare and this pedigree is probably the sixth to be reported. Transmission is most likely autosomal dominant, but the unusual feature of the present family is the fact that the proportion of affected members is so high that one is tempted to suspect preferential transmission of the chromosome carrying the MC gene.
摘要
本文描述了一个患有小角膜-白内障（MC）综合征的14名患者的家系。MC综合征非常罕见，这个家系可能是第六个被报道的。其遗传方式很可能是常染色体显性遗传，但本家族的不寻常之处在于，患病成员的比例如此之高，以至于有人怀疑携带MC基因的染色体存在优先传递现象。
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本文引用的文献
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Autosomal dominant cataracts and microcornea.常染色体显性白内障和小角膜。
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