Linkage studies on Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism

Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism were observed in two kindreds, and they were found to occur togetherin 9 out of 10 affected individuals. The last patient had Marinesco-Sjøgren syndrome without manifestations of hypogonadism, and similar findings were observed in two affected sisters from a third kindred. On the hypothesis that the concurrence of Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism was caused by linkage, a lod score analysis was conducted. Four sibships in the two kindreds were informative with respect to linkage. At the recombination fraction 0.05, the lod score exceeded 3. If linkage causes the concurrence of Marinesco-Sjøgren syndrome and hypergonadotropic hypongonadism in these kindreds, the linkage is close. No linkage was observed between the clinical syndromes and 17 marker systems.