Literature DB >> 7608033

A case of autism associated with partial tetrasomy 15.

M Hotopf1, P Bolton.   

Abstract

We report a male individual with partial tetrasomy 15 and severe mental retardation, who met ICD-10 criteria for autism. The relevance of this to the etiology of autism is discussed.

Entities:  

Mesh：

Year:  1995        PMID： 7608033     DOI： 10.1007/BF02178166

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


  19 in total

1.  Partial D 15 trisomy. A case and general review.

Authors:  W R Centerwall; J P Morris
Journal:  Hum Hered       Date:  1975       Impact factor: 0.444

2.  Autism associated with marker chromosome.

Authors:  C Gillberg; S Steffenburg; J Wahlström; I C Gillberg; A Sjöstedt; T Martinsson; S Liedgren; O Eeg-Olofsson
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  1991-05       Impact factor: 8.829

Review 3.  Heterogeneity of schizophrenia. Conceptual models and analytic strategies.

Authors:  M T Tsuang; M J Lyons; S V Faraone
Journal:  Br J Psychiatry       Date:  1990-01       Impact factor: 9.319

4.  An analysis of the parental age effect for inv dup (15).

Authors:  J M Connor; D H Gilmore
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318

5.  Hypomelanosis of Ito in three cases with autism and autistic-like conditions.

Authors:  A Akefeldt; C Gillberg
Journal:  Dev Med Child Neurol       Date:  1991-08       Impact factor: 5.449

6.  Cytogenetic and clinical studies in five cases of inv dup(15).

Authors:  L Wisniewski; T Hassold; J Heffelfinger; J V Higgins
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

Review 7.  Autism and known medical conditions: myth and substance.

Authors:  M Rutter; A Bailey; P Bolton; A Le Couteur
Journal:  J Child Psychol Psychiatry       Date:  1994-02       Impact factor: 8.982

8.  Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Authors:  W P Robinson; J Wagstaff; F Bernasconi; C Baccichetti; L Artifoni; E Franzoni; L Suslak; L Y Shih; H Aviv; A A Schinzel
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

9.  Diagnostic assessment in a sample of autistic and developmentally impaired adolescents.

Authors:  E Fombonne
Journal:  J Autism Dev Disord       Date:  1992-12

10.  Clinical and molecular analysis of five inv dup(15) patients.

Authors:  W P Robinson; F Binkert; R Giné; C Vazquez; W Müller; W Rosenkranz; A Schinzel
Journal:  Eur J Hum Genet       Date:  1993       Impact factor: 4.246
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  13 in total

Review 1.  Chromosomal disorders and autism.

Authors:  C Gillberg
Journal:  J Autism Dev Disord       Date:  1998-10

2.  Maternal origin of inv dup(15) chromosomes in infantile autism.

Authors:  T Martinsson; T Johannesson; M Vujic; A Sjöstedt; S Steffenburg; C Gillberg; J Wahlström
Journal:  Eur Child Adolesc Psychiatry       Date:  1996-12       Impact factor: 4.785

3.  Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

Authors:  E H Cook; V Lindgren; B L Leventhal; R Courchesne; A Lincoln; C Shulman; C Lord; E Courchesne
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

Review 4.  Etiology of infantile autism: a review of recent advances in genetic and neurobiological research.

Authors:  G Trottier; L Srivastava; C D Walker
Journal:  J Psychiatry Neurosci       Date:  1999-03       Impact factor: 6.186

5.  A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study.

Authors:  Marijcke W M Veltman; Russell J Thompson; Ellen E Craig; Nicholas R Dennis; Sian E Roberts; Vanessa Moore; Josie A Brown; Patrick F Bolton
Journal:  J Autism Dev Disord       Date:  2005-02

Review 6.  Deletion of chromosome 2q37 and autism: a distinct subtype?

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

7.  Brief report: A case of autism with interstitial deletion of chromosome 13.

Authors:  M M Steele; M Al-Adeimi; V M Siu; Y S Fan
Journal:  J Autism Dev Disord       Date:  2001-04

8.  Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.

Authors:  E H Cook; R Y Courchesne; N J Cox; C Lord; D Gonen; S J Guter; A Lincoln; K Nix; R Haas; B L Leventhal; E Courchesne
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

9.  Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.

Authors:  Russell John Thompson; Patrick F Bolton
Journal:  J Autism Dev Disord       Date:  2003-04

10.  Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.

Authors:  Simon G Gregory; Jessica J Connelly; Aaron J Towers; Jessica Johnson; Dhani Biscocho; Christina A Markunas; Carla Lintas; Ruth K Abramson; Harry H Wright; Peter Ellis; Cordelia F Langford; Gordon Worley; G Robert Delong; Susan K Murphy; Michael L Cuccaro; Antonello Persico; Margaret A Pericak-Vance
Journal:  BMC Med       Date:  2009-10-22       Impact factor: 8.775
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