Literature DB >> 24973346

Challenging behaviour in a patient with schizophrenia and a 1q21.1 duplication.

Gautam Gulati1, Sophie Behrman1, Vivek Khosla1, Valerie Murphy2.   

Abstract

We report the case of a 42-year-old man with a 22-year history of schizophrenia, necessitating frequent detentions under the Mental Health Act for relapses in his mental state and challenging behaviour which has also brought him into contact with the law. His illness has proven resistant to treatment with conventional strategies and he developed serious priapism with clozapine. His challenging behaviour, some of which is not felt to be associated with schizophrenia, complicates any discharge planning from his current detention. Based on a history of childhood cardiac disease, and mildly atypical facies, a genetic screen was requested which showed a 1q21.1 duplication, likely causal in his schizophrenic illness. A review of proteins coded by the locus of the duplication did not reveal any specific targets for pharmacotherapy. 2014 BMJ Publishing Group Ltd.

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Year:  2014        PMID: 24973346      PMCID: PMC4078464          DOI: 10.1136/bcr-2014-203957

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  5 in total

1.  An excess of chromosome 1 breakpoints in male infertility.

Authors:  Iben Bache; Elvire Van Assche; Sultan Cingoz; Merete Bugge; Zeynep Tümer; Mads Hjorth; Claes Lundsteen; James Lespinasse; Kirsten Winther; Anita Niebuhr; Vera Kalscheuer; Inge Liebaers; Maryse Bonduelle; Herman Tournaye; Carmen Ayuso; Gotthold Barbi; Elisabeth Blennow; Georges Bourrouillou; Karen Brondum-Nielsen; Gert Bruun-Petersen; Marie-Francoise Croquette; Sophie Dahoun; Bruno Dallapiccola; Val Davison; Bruno Delobel; Hans-Christoph Duba; Laurence Duprez; Malcolm Ferguson-Smith; David R Fitzpatrick; Elizabeth Grace; Ingo Hansmann; Maj Hultén; Peter Ka Jensen; Philippe Jonveaux; Ulf Kristoffersson; Isidora Lopez-Pajares; Jean McGowan-Jordan; Jan Murken; Maria Orera; Tony Parkin; Eberhard Passarge; Carmen Ramos; Kirsten Rasmussen; Werner Schempp; Regine Schubert; Eberhard Schwinger; Fiorella Shabtai; Kim Smith; Raymond Stallings; Margarita Stefanova; Lisbeth Tranebjerg; Catherine Turleau; Carl Birger van der Hagen; Michel Vekemans; Nadja Kokalj Vokac; Klaus Wagner; Jan Wahlstroem; Leopoldo Zelante; Niels Tommerup
Journal:  Eur J Hum Genet       Date:  2004-12       Impact factor: 4.246

2.  Understanding the impact of 1q21.1 copy number variant.

Authors:  Chansonette Harvard; Emma Strong; Eloi Mercier; Rita Colnaghi; Diana Alcantara; Eva Chow; Sally Martell; Christine Tyson; Monica Hrynchak; Barbara McGillivray; Sara Hamilton; Sandra Marles; Aziz Mhanni; Angelika J Dawson; Paul Pavlidis; Ying Qiao; Jeanette J Holden; Suzanne M E Lewis; Mark O'Driscoll; Evica Rajcan-Separovic
Journal:  Orphanet J Rare Dis       Date:  2011-08-08       Impact factor: 4.123

3.  Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Authors:  Nicola Brunetti-Pierri; Jonathan S Berg; Fernando Scaglia; John Belmont; Carlos A Bacino; Trilochan Sahoo; Seema R Lalani; Brett Graham; Brendan Lee; Marwan Shinawi; Joseph Shen; Sung-Hae L Kang; Amber Pursley; Timothy Lotze; Gail Kennedy; Susan Lansky-Shafer; Christine Weaver; Elizabeth R Roeder; Theresa A Grebe; Georgianne L Arnold; Terry Hutchison; Tyler Reimschisel; Stephen Amato; Michael T Geragthy; Jeffrey W Innis; Ewa Obersztyn; Beata Nowakowska; Sally S Rosengren; Patricia I Bader; Dorothy K Grange; Sayed Naqvi; Adolfo D Garnica; Saunder M Bernes; Chin-To Fong; Anne Summers; W David Walters; James R Lupski; Pawel Stankiewicz; Sau Wai Cheung; Ankita Patel
Journal:  Nat Genet       Date:  2008-12       Impact factor: 38.330

Review 4.  1q21.1 Microduplication expression in adults.

Authors:  Alessia Dolcetti; Candice K Silversides; Christian R Marshall; Anath C Lionel; Dimitri J Stavropoulos; Stephen W Scherer; Anne S Bassett
Journal:  Genet Med       Date:  2012-09-27       Impact factor: 8.822

5.  Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

Authors:  Santhosh Girirajan; Megan Y Dennis; Carl Baker; Maika Malig; Bradley P Coe; Catarina D Campbell; Kenneth Mark; Tiffany H Vu; Can Alkan; Ze Cheng; Leslie G Biesecker; Raphael Bernier; Evan E Eichler
Journal:  Am J Hum Genet       Date:  2013-01-31       Impact factor: 11.025

  5 in total

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