Sirinavin C, Trowbridge A A
J Med Genet. 1975 Dec;12(4):339-54. doi: 10.1136/jmg.12.4.339.
A large family with dyskeratosis congenita is reported. There were nine affected males, the findings in five of who are reported. We review 46 cases selected from the literature. The cardinal findings of this inherited multisystem disorder are delineated from these 51 cases. The complications of the disease, including opportunistic infection, are described. The parallel is made between dyskeratosis congenita and Fanconi's anaemia. The X-linked transmission of dyskeratosis congenita is confirmed by the family pedigree in this report. From the analysis of the families reported in the literature, there appears to be genetic heterogeneity in this disease. This study in our family indicates absence of close linkage between the Xga locus and the X-linked recessive form of dyskeratosis congenita.
报道了一个患有先天性角化不良的大家族。有9名患病男性，其中5人的检查结果被报道。我们从文献中选取了46个病例进行回顾。从这51个病例中明确了这种遗传性多系统疾病的主要特征。描述了该疾病的并发症，包括机会性感染。对先天性角化不良和范科尼贫血进行了比较。本报告中的家族谱系证实了先天性角化不良的X连锁遗传方式。通过对文献中报道的家族进行分析，该病似乎存在遗传异质性。我们家族的这项研究表明，Xga基因座与X连锁隐性先天性角化不良之间不存在紧密连锁关系。
