Familial 5q11.2→q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia
- 1 January 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 35 (1), 10-13
- https://doi.org/10.1002/ajmg.1320350103
Abstract
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.Keywords
This publication has 13 references indexed in Scilit:
- A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg‐Welander syndromeAmerican Journal of Medical Genetics, 1988
- The Gene for Familial Polyposis Coli Maps to the Long Arm of Chromosome 5Science, 1987
- Bipolar affective disorders linked to DNA markers on chromosome 11Nature, 1987
- The Genetic Defect Causing Familial Alzheimer's Disease Maps on Chromosome 21Science, 1987
- PstI RFLP in the human hexosaminidase (HEXB) gene on chromosome 5Nucleic Acids Research, 1987
- SEGREGATION ANALYSIS OF SCHIZOPHRENIA AND RELATED DISORDERS1984
- Regional localization of α-galactosidase (GLA) to Xpter→q22, hexosaminidase B (HEXB) to 5q13→qter, and arylsulfatase B (ARSB) to 5pter→q13Cytogenetic and Genome Research, 1984
- Selective linkage disruption in human-Chinese hamster cell hybrids: deletion mapping of the leuS, hexB, emtB, and chr genes on human chromosome 5.Molecular and Cellular Biology, 1982
- Evidence for localization of the gene for hexosaminidase B to the cen→q13 region of human chromosome 5 using mouse × human hybrid cellsCytogenetic and Genome Research, 1978
- A polygenic theory of schizophrenia.Proceedings of the National Academy of Sciences, 1967