Literature DB >> 11450821

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

M M Steele1, M Al-Adeimi, V M Siu, Y S Fan.   

Abstract

A case of an 18-year-old male who meets the DSM-IV criteria for autistic disorder and borderline intelligence is described. Cytogenetic evaluation revealed a karyotype of 46, XY, del(13)(q14q22). The relevance of this case to the etiology of autism is discussed.

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Mesh：

Year:  2001        PMID： 11450821     DOI： 10.1023/a:1010759401344

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


  15 in total

1.  Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients.

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Review 2.  Chromosomal disorders and autism.

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

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

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Journal:  Am J Med Genet       Date:  1999-12-15

Review 4.  Infantile autism and associated autosomal chromosome abnormalities: a register-based study and a literature survey.

Authors:  M Lauritsen; O Mors; P B Mortensen; H Ewald
Journal:  J Child Psychol Psychiatry       Date:  1999-03       Impact factor: 8.982

5.  Characterization and comparison of autistic subgroups: 10 years' experience with autistic children.

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6.  First report of a Canadian epidemiological study of autistic syndromes.

Authors:  S E Bryson; B S Clark; I M Smith
Journal:  J Child Psychol Psychiatry       Date:  1988-07       Impact factor: 8.982

7.  A case-control family history study of autism.

Authors:  P Bolton; H Macdonald; A Pickles; P Rios; S Goode; M Crowson; A Bailey; M Rutter
Journal:  J Child Psychol Psychiatry       Date:  1994-07       Impact factor: 8.982

Review 8.  Autism, mental retardation, and chromosomal abnormalities.

Authors:  R Mariner; A W Jackson; A Levitas; R J Hagerman; M Braden; P M McBogg; A C Smith; R Berry
Journal:  J Autism Dev Disord       Date:  1986-12

9.  Prevalence of the fragile X anomaly amongst autistic twins and singletons.

Authors:  A Bailey; P Bolton; L Butler; A Le Couteur; M Murphy; S Scott; T Webb; M Rutter
Journal:  J Child Psychol Psychiatry       Date:  1993-07       Impact factor: 8.982

10.  Neuropsychiatric assessment of children with autism: a population-based study.

Authors:  S Steffenburg
Journal:  Dev Med Child Neurol       Date:  1991-06       Impact factor: 5.449
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  8 in total

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2.  A genome scan for loci shared by autism spectrum disorder and language impairment.

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Journal:  Ann Neurol       Date:  2018-10-25       Impact factor: 10.422

4.  A double hit implicates DIAPH3 as an autism risk gene.

Authors:  J A S Vorstman; E van Daalen; G R Jalali; E R E Schmidt; R J Pasterkamp; M de Jonge; E A M Hennekam; E Janson; W G Staal; B van der Zwaag; J P H Burbach; R S Kahn; B S Emanuel; H van Engeland; R A Ophoff
Journal:  Mol Psychiatry       Date:  2010-03-23       Impact factor: 15.992

5.  Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses.

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7.  Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders.

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Journal:  Hum Genet       Date:  2016-08-17       Impact factor: 4.132

8.  13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay.

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  8 in total

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