Literature DB >> 8055249

Case reports of autism with interstitial deletion of chromosome 17 (p11.2 p11.2) and monosomy of chromosome 5 (5pter-->5p15.3).

P Vostanis1, R Harrington, M Prendergast, P Farndon.   

Abstract

Two cases of autism and autosomal chromosome abnormalities are reported: a 14-year-old boy with interstitial deletion of chromosome 17 and a 19-year-old man with an unbalanced translocation of chromosome 5, resulting in monosomy for part of the short arm (5pter-->5p15.3). The possible implications for research into the aetiology of autism are discussed.

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Year:  1994        PMID： 8055249     DOI： 10.1097/00041444-199422000-00008

Source DB:  PubMed          Journal:  Psychiatr Genet        ISSN： 0955-8829            Impact factor:   2.458


  7 in total

Review 1.  Specific genetic disorders and autism: clinical contribution towards their identification.

Authors:  David Cohen; Nadège Pichard; Sylvie Tordjman; Clarisse Baumann; Lydie Burglen; Elsa Excoffier; Gabriela Lazar; Philippe Mazet; Clément Pinquier; Alain Verloes; Delphine Héron
Journal:  J Autism Dev Disord       Date:  2005-02

2.  2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.

Authors:  Xudong Liu; Patrick Malenfant; Chelsea Reesor; Alana Lee; Melissa L Hudson; Chansonette Harvard; Ying Qiao; Antonio M Persico; Ira L Cohen; Albert E Chudley; Cynthia Forster-Gibson; Evica Rajcan-Separovic; M E Suzanne Lewis; Jeanette J A Holden
Journal:  Eur J Hum Genet       Date:  2011-07-13       Impact factor: 4.246

3.  Presence of large deletions in kindreds with autism.

Authors:  Chang-En Yu; Geraldine Dawson; Jeffrey Munson; Ian D'Souza; Julie Osterling; Annette Estes; Anne-Louise Leutenegger; Pamela Flodman; Moyra Smith; Wendy H Raskind; M Anne Spence; William McMahon; Ellen M Wijsman; Gerard D Schellenberg
Journal:  Am J Hum Genet       Date:  2002-06-07       Impact factor: 11.025

Review 4.  Molecular genetics of autism spectrum disorders.

Authors:  Barkur S Shastry
Journal:  J Hum Genet       Date:  2003-09-11       Impact factor: 3.172

Review 5.  Melatonin supplementation for severe and intractable sleep disturbance in young people with genetically determined developmental disabilities: short review and commentary.

Authors:  J Turk
Journal:  J Med Genet       Date:  2003-11       Impact factor: 6.318

Review 6.  Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.

Authors:  Cyrille Robert; Laurent Pasquier; David Cohen; Mélanie Fradin; Roberto Canitano; Léna Damaj; Sylvie Odent; Sylvie Tordjman
Journal:  Int J Mol Sci       Date:  2017-03-12       Impact factor: 5.923

7.  The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder.

Authors:  Arie J Stam; Patricia F Schothorst; Jacob As Vorstman; Wouter G Staal
Journal:  Appl Clin Genet       Date:  2009-03-10
  7 in total

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