Open AccessFamilial 5q11.2→q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia
Author(s) -
McGillivray Barbara C.,
Bassett Anne S.,
Langlois Sylvie,
Pantzar Tapio,
Wood Stephen
Publication year - 1990
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/ajmg.1320350103
Subject(s) - gene duplication , genetics , schizophrenia (object oriented programming) , biology , restriction fragment length polymorphism , linkage (software) , gene , phenotype , segmental duplication , genetic linkage , lod score , chromosome , gene mapping , genotype , psychology , genome , psychiatry , gene family
We report on 2 relatives with a segmental duplication of 5q11.2→13.3. The phenotype is surprisingly limited for the degree of chromosome imbalance, the propositus presenting with schizophrenia. Using RFLP markers, we have shown that the gene for HEXB lies within the duplicated region. We suggest this region as a candidate region for the location of a single major gene which predisposes to schizophrenia and which may be assessed by linkage analysis.