De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder

The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no p...

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Autores principales: Bayou, Nadia, M'rad, Ridha, Belhaj, Ahlem, Daoud, Hussein, Ben Jemaa, Lamia, Zemni, Ramzi, Briault, Sylvain, Helayem, M. Bechir, Chaabouni, Habiba
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2373955/
https://www.ncbi.nlm.nih.gov/pubmed/18475318
http://dx.doi.org/10.1155/2008/231904
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author Bayou, Nadia
M'rad, Ridha
Belhaj, Ahlem
Daoud, Hussein
Ben Jemaa, Lamia
Zemni, Ramzi
Briault, Sylvain
Helayem, M. Bechir
Chaabouni, Habiba
author_facet Bayou, Nadia
M'rad, Ridha
Belhaj, Ahlem
Daoud, Hussein
Ben Jemaa, Lamia
Zemni, Ramzi
Briault, Sylvain
Helayem, M. Bechir
Chaabouni, Habiba
author_sort Bayou, Nadia
collection PubMed
description The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16)(p22.1;p16.2) translocation. G-banded chromosomes and fluorescent in situ hybridization (FISH) were used to examine the patient's karyotype as well as his parents'. FISH with specific RP11-BAC clones mapping near 7p22.1 and 16p11.2 was used to refine the location of the breakpoints. This is, in the best of our knowledge, the first report of an individual with autism and this specific chromosomal aberration.
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spelling pubmed-23739552008-05-12 De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder Bayou, Nadia M'rad, Ridha Belhaj, Ahlem Daoud, Hussein Ben Jemaa, Lamia Zemni, Ramzi Briault, Sylvain Helayem, M. Bechir Chaabouni, Habiba J Biomed Biotechnol Case Report The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16)(p22.1;p16.2) translocation. G-banded chromosomes and fluorescent in situ hybridization (FISH) were used to examine the patient's karyotype as well as his parents'. FISH with specific RP11-BAC clones mapping near 7p22.1 and 16p11.2 was used to refine the location of the breakpoints. This is, in the best of our knowledge, the first report of an individual with autism and this specific chromosomal aberration. Hindawi Publishing Corporation 2008 2008-04-23 /pmc/articles/PMC2373955/ /pubmed/18475318 http://dx.doi.org/10.1155/2008/231904 Text en Copyright © 2008 Nadia Bayou et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Bayou, Nadia
M'rad, Ridha
Belhaj, Ahlem
Daoud, Hussein
Ben Jemaa, Lamia
Zemni, Ramzi
Briault, Sylvain
Helayem, M. Bechir
Chaabouni, Habiba
De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder
title De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder
title_full De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder
title_fullStr De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder
title_full_unstemmed De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder
title_short De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder
title_sort de novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2373955/
https://www.ncbi.nlm.nih.gov/pubmed/18475318
http://dx.doi.org/10.1155/2008/231904
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