Literature DB >> 2055888

Autism associated with marker chromosome.

C Gillberg1, S Steffenburg, J Wahlström, I C Gillberg, A Sjöstedt, T Martinsson, S Liedgren, O Eeg-Olofsson.   

Abstract

Six boys who all showed the combination of moderate-severe mental retardation, autistic behavior, and mild-moderate physical stigmatization are described. Muscular hypotonia, epilepsy, and kyphoscoliosis were associated features in several cases, as were extremes of short stature and low weight. A supernumerary chromosome was found in all six cases, and it appears that there may be a separate syndrome associated with partial trisomy of chromosome 15.

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Year:  1991        PMID: 2055888     DOI: 10.1097/00004583-199105000-00022

Source DB:  PubMed          Journal:  J Am Acad Child Adolesc Psychiatry        ISSN: 0890-8567            Impact factor:   8.829


  28 in total

1.  A genomic screen of autism: evidence for a multilocus etiology.

Authors:  N Risch; D Spiker; L Lotspeich; N Nouri; D Hinds; J Hallmayer; L Kalaydjieva; P McCague; S Dimiceli; T Pitts; L Nguyen; J Yang; C Harper; D Thorpe; S Vermeer; H Young; J Hebert; A Lin; J Ferguson; C Chiotti; S Wiese-Slater; T Rogers; B Salmon; P Nicholas; P B Petersen; C Pingree; W McMahon; D L Wong; L L Cavalli-Sforza; H C Kraemer; R M Myers
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  The treatment of epilepsy in autism.

Authors:  C Gillberg
Journal:  J Autism Dev Disord       Date:  1991-03

3.  Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.

Authors:  Dorota A Kwasnicka-Crawford; Wendy Roberts; Stephen W Scherer
Journal:  J Autism Dev Disord       Date:  2007-04

Review 4.  Chromosomal disorders and autism.

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

5.  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

6.  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

7.  Molecular and cytogenetic analyses on Brazilian youths with pervasive developmental disorders.

Authors:  MarcosRobertoHigino Estécio; Agnes Cristina Fett-Conte; Marileila Varella-Garcia; Cíntia Fridman; Ana Elizabete Silva
Journal:  J Autism Dev Disord       Date:  2002-02

Review 8.  Clinical review of genetic epileptic encephalopathies.

Authors:  Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-01-25       Impact factor: 2.708

9.  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

10.  A case of autism associated with partial tetrasomy 15.

Authors:  M Hotopf; P Bolton
Journal:  J Autism Dev Disord       Date:  1995-02
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