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Literature DB >> 1967903

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

B C McGillivray¹, A S Bassett, S Langlois, T Pantzar, S Wood.

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.

Entities: Disease Gene

Mesh：

Substances：
Hexosaminidases

Year: 1990 PMID： 1967903 PMCID： PMC3142272 DOI： 10.1002/ajmg.1320350103

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

12 in total

1. Evidence for localization of the gene for hexosaminidase B to the cen leads to q13 region of human chromosome 5 using mouse x human hybrid cells.

Authors: D L George; U Francke
Journal: Cytogenet Cell Genet Date: 1978

2. A polygenic theory of schizophrenia.

Authors: I I Gottesman; J Shields
Journal: Proc Natl Acad Sci U S A Date: 1967-07 Impact factor: 11.205

Review 3. Bipolar affective disorders linked to DNA markers on chromosome 11.

Authors: J A Egeland; D S Gerhard; D L Pauls; J N Sussex; K K Kidd; C R Allen; A M Hostetter; D E Housman
Journal: Nature Date: 1987 Feb 26-Mar 4 Impact factor: 49.962

4. The transmission of schizophrenia under a multifactorial threshold model.

Authors: M McGue; I I Gottesman; D C Rao
Journal: Am J Hum Genet Date: 1983-11 Impact factor: 11.025

5. Regional localization of alpha-galactosidase (GLA) to Xpter----q22, hexosaminidase B (HEXB) to 5q13----qter, and arylsulfatase B (ARSB) to 5pter----q13.

Authors: M F Fox; D L DuToit; L Warnich; A E Retief
Journal: Cytogenet Cell Genet Date: 1984

6. The genetic defect causing familial Alzheimer's disease maps on chromosome 21.

Authors: P H St George-Hyslop; R E Tanzi; R J Polinsky; J L Haines; L Nee; P C Watkins; R H Myers; R G Feldman; D Pollen; D Drachman
Journal: Science Date: 1987-02-20 Impact factor: 47.728

7. Selective linkage disruption in human-Chinese hamster cell hybrids: deletion mapping of the leuS, hexB, emtB, and chr genes on human chromosome 5.

Authors: S Dana; J J Wasmuth
Journal: Mol Cell Biol Date: 1982-10 Impact factor: 4.272

8. A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome.

Authors: S Wood; R J Shukin; B C McGillivray; P N Ray; R G Worton
Journal: Am J Med Genet Date: 1988-02

9. Partial trisomy chromosome 5 cosegregating with schizophrenia.

Authors: A S Bassett; B C McGillivray; B D Jones; J T Pantzar
Journal: Lancet Date: 1988-04-09 Impact factor: 79.321

10. Segregation analysis of schizophrenia and related disorders.

Authors: N Risch; M Baron
Journal: Am J Hum Genet Date: 1984-09 Impact factor: 11.025

5 in total

1. Genetic counseling for schizophrenia: a review of referrals to a provincial medical genetics program from 1968 to 2007.

Authors: M J Hunter; Catriona Hippman; William G Honer; Jehannine C Austin
Journal: Am J Med Genet A Date: 2010-01 Impact factor: 2.802

Review 2. Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies.

Authors: E J Breslau-Siderius; J T Wijnen; J G Dauwerse; J M de Pater; F A Beemer; P M Khan
Journal: Hum Genet Date: 1993-11 Impact factor: 4.132