Literature DB >> 10686546

Chromosome 22q11 deletions are not found in autistic patients identified using strict diagnostic criteria. IMGSAC. International Molecular Genetics Study of Autism Consortium.

C M Ogilvie1, J Moore, M Daker, S Palferman, Z Docherty.   

Abstract

A group of 103 subjects with a strict diagnosis of autism were tested for deletion of band q11.2 on the long arm of chromosome 22. No deletions were found, indicating that when a patient has been diagnosed with autism using strict and consistent criteria, in the absence of other indications, it is unlikely that this individual will have a 22q11 deletion. Testing for 22q11 deletions is therefore unlikely to be necessary in these patients. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:15-17, 2000. Copyright 2000 Wiley-Liss, Inc.

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Year:  2000        PMID: 10686546

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


  8 in total

Review 1.  Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease.

Authors:  Anne S Bassett; Stephen W Scherer; Linda M Brzustowicz
Journal:  Am J Psychiatry       Date:  2010-05-03       Impact factor: 18.112

2.  Autism spectrum disorders and childhood-onset schizophrenia: clinical and biological contributions to a relation revisited.

Authors:  Judith Rapoport; Alex Chavez; Deanna Greenstein; Anjene Addington; Nitin Gogtay
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2009-01       Impact factor: 8.829

Review 3.  22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.

Authors:  Maria Karayiorgou; Tony J Simon; Joseph A Gogos
Journal:  Nat Rev Neurosci       Date:  2010-06       Impact factor: 34.870

4.  Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome.

Authors:  Sarah E Fine; Alison Weissman; Marsha Gerdes; Jennifer Pinto-Martin; Elaine H Zackai; Donna M McDonald-McGinn; Beverly S Emanuel
Journal:  J Autism Dev Disord       Date:  2005-08

5.  Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion).

Authors:  Kevin M Antshel; Alka Aneja; Leslie Strunge; Jena Peebles; Wanda P Fremont; Kimberly Stallone; Nuria Abdulsabur; Anne Marie Higgins; Robert J Shprintzen; Wendy R Kates
Journal:  J Autism Dev Disord       Date:  2006-12-19

6.  Mouse Models of 22q11.2-Associated Autism Spectrum Disorder.

Authors:  Noboru Hiroi; Takeshi Hiramoto; Kathryn M Harper; Go Suzuki; Shuken Boku
Journal:  Autism Open Access       Date:  2012

7.  Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.

Authors:  Opal Ousley; A Nichole Evans; Samuel Fernandez-Carriba; Erica L Smearman; Kimberly Rockers; Michael J Morrier; David W Evans; Karlene Coleman; Joseph Cubells
Journal:  Int J Mol Sci       Date:  2017-05-18       Impact factor: 5.923

8.  Association testing of copy number variants in schizophrenia and autism spectrum disorders.

Authors:  Bernard J Crespi; Helen J Crofts
Journal:  J Neurodev Disord       Date:  2012-05-30       Impact factor: 4.025

  8 in total

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