Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder
نویسندگان
چکیده
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.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of Biomedicine and Biotechnology
دوره 2007 شماره
صفحات -
تاریخ انتشار 2007