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 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.
Ouldim
Karim
K
Département de génétique médicale, Institut National d'Hygiène, Rabat 11400, Morocco.
Natiq
Abdelhafid
A
Jonveaux
Philippe
P
Sefiani
Abdelaziz
A