Premium
Linkage studies on the Marinesco‐Sjøgren syndrome and hypergonadotropic hypogonadism
Author(s) -
Skre H.,
Berg K.
Publication year - 1977
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1977.tb01279.x
Subject(s) - hypergonadotropic hypogonadism , human genetics , genetic linkage , linkage (software) , medicine , genetics , biology , gene , hormone
Marinesco‐Sjøigren syndrome and hypergonadotropic hypogonadism were observed in two kindreds, and they were found to occur together in 9 out of 10 affected individuals. The last patient had Marinesco‐Sjøigren 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‐Sjøigren 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‐Sjøigren syndrome and hypergonadotropic hypogonadism in these kindreds, the linkage is close. No linkage was observed between the clinical syndromes and 17 marker systems.