Familial 5q11.2→q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia

This is the authors' abstract. We don't add key points for this paper.

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.