Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.
نویسندگان
چکیده
منابع مشابه
Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder.
We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular cytogenetic approaches by fluorescence in situ hybridization technique, the karyotype was demonstrated as 47,XX,+mar.ish der(15)(D15Z1++,D15S11++,GABRB3++,PML-). Duplication of th...
متن کاملTetrasomy 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 fluores...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1998
ISSN: 1468-6244
DOI: 10.1136/jmg.35.5.425