van Dorp D B, Delleman J W
J Pediatr Ophthalmol Strabismus. 1979 May-Jun;16(3):166-71. doi: 10.3928/0191-3913-19790501-08.
An investigation has been made in a family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear, and dental anomalies. The carrier females show only slight symptoms. They all have lens opacities, and most of them show more symptoms. For genetic counseling it is of utmost importance to examine all family members and to re-examine the females from time to time for early lens opacificaiton, which is the most constant finding. In literature families have been described with similar clinical symptoms only a few times. We have been trying to demonstrate a linkage with the Xga locus, which might enable us to locate the mutant gene on the X-chromosome and to exclude with more certainty the carrier status. The results of this blood group specification were not informative. In future we hope to be able to demonstrate a linkage with other markers located on the X-chromosome.
对一个患有X染色体隐性先天性白内障、小眼症、特殊耳部形态和牙齿异常的家族进行了调查。携带者女性仅表现出轻微症状。她们都有晶状体混浊，且大多数人有更多症状。对于遗传咨询而言，检查所有家庭成员并定期重新检查女性是否有早期晶状体混浊至关重要，这是最常见的发现。在文献中，仅有几次描述过具有类似临床症状的家族。我们一直在尝试证明与Xga位点的连锁关系，这可能使我们能够在X染色体上定位突变基因，并更确定地排除携带者状态。这种血型鉴定的结果并无信息价值。未来我们希望能够证明与位于X染色体上的其他标记的连锁关系。
