Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder

We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication...

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Detalles Bibliográficos
Autores principales: Ouldim, Karim, Natiq, Abdelhafid, Jonveaux, Philippe, Sefiani, Abdelaziz
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2007
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1874673/
https://www.ncbi.nlm.nih.gov/pubmed/17541469
http://dx.doi.org/10.1155/2007/61538
Descripción
Sumario:We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder.

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