Literature DB >> 7810587

Partial trisomy 16p in an adolescent with autistic disorder and Tourette's syndrome.

J Hebebrand1, M Martin, J Körner, B Roitzheim, K de Braganca, W Werner, H Remschmidt.   

Abstract

A partial trisomy 16p was identified in a 14-year-old male adolescent with autistic disorder. He additionally showed complex motor and vocal phenomena, including some simple tics which had first appeared in childhood. Whereas these simple tics were of subclinical significance, an additional diagnosis of Tourette's syndrome (TS) appears justified. The case report illustrates the diagnostic difficulties in assessing psychiatric symptomatology associated with both disorders, especially complex motor and vocal phenomena. The cytogenetic finding is discussed critically in the light of other chromosome abnormalities reported in both TS and autistic disorder. Chromosome 16p should be considered as a candidate region especially for autistic disorder.

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Year:  1994        PMID: 7810587     DOI: 10.1002/ajmg.1320540316

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  7 in total

Review 1.  Chromosomal disorders and autism.

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

2.  Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16.

Authors:  Thomas H Wassink; Veronica J Vieland; Val C Sheffield; Christopher W Bartlett; Rhinda Goedken; Deborah Childress; Joseph Piven
Journal:  Psychiatr Genet       Date:  2008-04       Impact factor: 2.458

3.  Analysis of transmission of novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene in patients with autism.

Authors:  Marlene B Lauritsen; Mette Nyegaard; Catalina Betancur; Catherine Colineaux; Trine L Josiassen; Torben A Kruse; Marion Leboyer; Henrik Ewald
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2003-08-15       Impact factor: 3.568

4.  Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.

Authors:  Shao-Qing Kuang; Dong-Chuan Guo; Siddharth K Prakash; Merry-Lynn N McDonald; Ralph J Johnson; Min Wang; Ellen S Regalado; Ludivine Russell; Jiu-Mei Cao; Callie Kwartler; Kurt Fraivillig; Joseph S Coselli; Hazim J Safi; Anthony L Estrera; Suzanne M Leal; Scott A LeMaire; John W Belmont; Dianna M Milewicz
Journal:  PLoS Genet       Date:  2011-06-16       Impact factor: 5.917

Review 5.  Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.

Authors:  Brian P Brooks; Jeanne M Meck; Bassem R Haddad; Claude Bendavid; Delphine Blain; Jeffrey A Toretsky
Journal:  BMC Med Genet       Date:  2006-01-13       Impact factor: 2.103

6.  The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder.

Authors:  Arie J Stam; Patricia F Schothorst; Jacob As Vorstman; Wouter G Staal
Journal:  Appl Clin Genet       Date:  2009-03-10

7.  The scaffold protein Nde1 safeguards the brain genome during S phase of early neural progenitor differentiation.

Authors:  Shauna L Houlihan; Yuanyi Feng
Journal:  Elife       Date:  2014-09-23       Impact factor: 8.140

  7 in total

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