Linkage studies on the Marinesco‐Sjøgren syndrome and hypergonadotropic hypogonadism
- 1 January 1977
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 11 (1) , 57-66
- https://doi.org/10.1111/j.1399-0004.1977.tb01279.x
Abstract
Marinesco-Sjogren syndrome and hypergonadotropic hypogonadism were observed in 2 kindreds, and occurred together in 9 of 10 affected individuals. The last patient had Marinesco-Sjogren syndrome without manifestations of hypogonadism, and similar findings were observed in 2 affected sisters from a 3rd kindred. On the hypothesis that the concurrence of Marinesco-Sjogren syndrome and hypergonadotropic hypogonadism was caused by linkage, a lod score analysis was conducted. Four sibships in the 2 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-Sjogren syndrome and hypergonadotropic hypogonadism in these kindreds, the linkage is close. No linkage was observed between the clinical syndromes and 17 marker systems.This publication has 11 references indexed in Scilit:
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