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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Detalles Bibliográficos
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
Descripción
Sumario: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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