Literature DB >> 11202107

Case report: autistic disorder and chromosomal abnormality 46, XX duplication (4) p12-p13.

M Sabaratnam1, J Turk, P Vroegop.   

Abstract

We report an 18-year-old female with a diagnosis of DSM-IV Autistic Disorder and moderate to severe mental retardation who was discovered to have a previously undescribed chromosomal abnormality 46, XX, duplication (4) p12-p13. We discuss her history and diagnosis, noting that the co-occurrence of her diagnoses have not previously been documented. The report adds to the literature supporting the argument that individuals with autistic spectrum disorders should be re-examined for chromosomal abnormalities.

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Year:  2000        PMID: 11202107     DOI: 10.1007/s007870070035

Source DB:  PubMed          Journal:  Eur Child Adolesc Psychiatry        ISSN: 1018-8827            Impact factor:   4.785


  5 in total

1.  Autism in association with Triple X syndrome.

Authors:  Syed Irfan Ali; Nollaig Byrne; Aisling Mulligan
Journal:  Eur Child Adolesc Psychiatry       Date:  2012-02-04       Impact factor: 4.785

2.  Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.

Authors:  D Q Ma; P L Whitehead; M M Menold; E R Martin; A E Ashley-Koch; H Mei; M D Ritchie; G R Delong; R K Abramson; H H Wright; M L Cuccaro; J P Hussman; J R Gilbert; M A Pericak-Vance
Journal:  Am J Hum Genet       Date:  2005-07-15       Impact factor: 11.025

3.  Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.

Authors:  Michelle B Polan; Matthew T Pastore; Katherine Steingass; Sayaka Hashimoto; Devon L Thrush; Robert Pyatt; Shalini Reshmi; Julie M Gastier-Foster; Caroline Astbury; Kim L McBride
Journal:  Eur J Hum Genet       Date:  2013-05-22       Impact factor: 4.246

4.  An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.

Authors:  J B Vincent; S I Horike; S Choufani; A D Paterson; W Roberts; P Szatmari; R Weksberg; B Fernandez; S W Scherer
Journal:  J Med Genet       Date:  2006-03-23       Impact factor: 6.318

Review 5.  Dendritic Integration Dysfunction in Neurodevelopmental Disorders.

Authors:  Andrew D Nelson; Kevin J Bender
Journal:  Dev Neurosci       Date:  2021-06-17       Impact factor: 3.421

  5 in total

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