Literature DB >> 12708586

Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3).

Louise Gallagher1, Kristin Becker, Geraldine Kearney, Adam Dunlop, Ray Stallings, Andrew Green, Michael Fitzgerald, Michael Gill.   

Abstract

Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the three core areas of communication, social interaction, and behavior. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of a genetic etiology. Molecular genetic studies report some association with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here we report a clinical case of autism with a deletion on chromosome 2 in a young male with high-functioning autism. The deletion seems to correspond with regions emerging from linkage studies. We propose this as a possible candidate region in the search for autism genes.

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Year:  2003        PMID: 12708586     DOI: 10.1023/a:1022242807513

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN: 0162-3257


  19 in total

Review 1.  Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations.

Authors:  J C Ramer; P N Mowrey; D B Robins; S Ligato; J Towfighi; R L Ladda
Journal:  Am J Med Genet       Date:  1990-11

2.  An autosomal genomic screen for autism. Collaborative linkage study of autism.

Authors:  S Barrett; J C Beck; R Bernier; E Bisson; T A Braun; T L Casavant; D Childress; S E Folstein; M Garcia; M B Gardiner; S Gilman; J L Haines; K Hopkins; R Landa; N H Meyer; J A Mullane; D Y Nishimura; P Palmer; J Piven; J Purdy; S L Santangelo; C Searby; V Sheffield; J Singleton; S Slager
Journal:  Am J Med Genet       Date:  1999-12-15

3.  Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

Authors:  S A Al-Awadi; T I Farag; K Naguib; A Teebi; A Cuschieri; S Al-Othman; T S Sundareshan
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

Review 4.  Deletion of chromosome 2q37 and autism: a distinct subtype?

Authors:  M Ghaziuddin; M Burmeister
Journal:  J Autism Dev Disord       Date:  1999-06

5.  Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study.

Authors:  A Philippe; M Martinez; M Guilloud-Bataille; C Gillberg; M Råstam; E Sponheim; M Coleman; M Zappella; H Aschauer; L Van Maldergem; C Penet; J Feingold; A Brice; M Leboyer; L van Malldergerme
Journal:  Hum Mol Genet       Date:  1999-05       Impact factor: 6.150

6.  A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.

Authors: 
Journal:  Am J Hum Genet       Date:  2001-07-30       Impact factor: 11.025

7.  Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33).

Authors:  K Benson; M Gordon; E R Wassman; C Tsi
Journal:  Am J Med Genet       Date:  1986-11

8.  Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

Authors:  R S Young; S D Shapiro; K L Hansen; L K Hine; D E Rainosek; F A Guerra
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

9.  Autism diagnostic observation schedule: a standardized observation of communicative and social behavior.

Authors:  C Lord; M Rutter; S Goode; J Heemsbergen; H Jordan; L Mawhood; E Schopler
Journal:  J Autism Dev Disord       Date:  1989-06

10.  A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden.

Authors:  S Steffenburg; C Gillberg; L Hellgren; L Andersson; I C Gillberg; G Jakobsson; M Bohman
Journal:  J Child Psychol Psychiatry       Date:  1989-05       Impact factor: 8.982

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  3 in total

1.  Examination of potential overlap in autism and language loci on chromosomes 2, 7, and 13 in two independent samples ascertained for specific language impairment.

Authors:  Christopher W Bartlett; Judy F Flax; Mark W Logue; Brett J Smith; Veronica J Vieland; Paula Tallal; Linda M Brzustowicz
Journal:  Hum Hered       Date:  2004       Impact factor: 0.444

Review 2.  Epac2-mediated dendritic spine remodeling: implications for disease.

Authors:  Peter Penzes; Kevin M Woolfrey; Deepak P Srivastava
Journal:  Mol Cell Neurosci       Date:  2010-11-27       Impact factor: 4.314

3.  Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.

Authors:  Susana Isabel Ferreira; Eunice Matoso; Margarida Venâncio; Jorge Saraiva; Joana B Melo; Isabel Marques Carreira
Journal:  Mol Cytogenet       Date:  2012-05-02       Impact factor: 2.009

  3 in total

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