父子にみられたvon Hippel病—その染色体分析

Chromosomal Study in a Family with von Hippel Disease

緒言

　von Hippel病における染色体分析の報告はすくなく，著者らの知る限りでは3編^{9）10）14）}にすぎず，またその成績はかならずしも一致しない。本報ではvon Hippel病を有する発端者である娘（症例1）とその父（von Hippel-Lindau病，症例2），および祖母，母，弟の染色体分析所見を報告する。

Chromosomes of peripheral blood leucocytes were analysed in five members of one family, two of which showed retinal angiomas.

Case 1. A 13-year-old girl noticed blurred vision and myodesopsia in April 1973. The right fundus revealed five angiomas. Four of these were small (1/10 to 1/4 disc diameters, dd). One at the upper fundus was large (3 dd), and had markedly tortuous and dilated feeding vessels, along which the detachment of the retina was present. The left eye was in an earlier stage, showing two small angio-mas (1/2, 1/10 dd) and slightly dilated vessels.