Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15
نویسندگان
چکیده
منابع مشابه
Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15.
Angelman syndrome (AS) is a neurogenetic disorder with an occurrence of approximately 1/20 000 live births. Characteristic features include severe mental retardation, absence of speech, seizures, abnormal EEG, hyperactivity, happy disposition with unmotivated laughter, ataxia of gait, and physical anomalies such as microbrachycephaly, macrostomia, protruding tongue, and widely spaced teeth. The...
متن کاملA patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction.
The chromosome 15 region q11-q13 is imprinted and contains a number of genes that are expressed only from the paternally or the maternally inherited chromosome. This region is also prone to structural rearrangements including interstitial duplications and triplications, inversions, translocations, deletions, and the formation of supernumerary marker chromosomes (SMCs). 7 These rearrangements ar...
متن کاملClinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.
Angelman syndrome (AS) is a complex neurological disorder with different genetic aetiologies. It is not known whether the clinical features vary depending on the genetic mechanism. We report four patients with AS owing to uniparental disomy (UPD). There were two males and two females, with a mean age of 8 years (range 7 to 11 years). All patients had a happy disposition, hyperactive behaviour, ...
متن کاملELECTRONIC LETTER A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction
The chromosome 15 region q11-q13 is imprinted and contains a number of genes that are expressed only from the paternally or the maternally inherited chromosome. This region is also prone to structural rearrangements including interstitial duplications and triplications, inversions, translocations, deletions, and the formation of supernumerary marker chromosomes (SMCs). 7 These rearrangements ar...
متن کاملThe behavioural phenotype of Angelman syndrome.
BACKGROUND The purpose of this review is to examine the notion of a behavioural phenotype for Angelman syndrome and identify methodological and conceptual influences on the accepted presentation. METHODS Studies examining the behavioural characteristics associated with Angelman syndrome are reviewed and methodology is described. RESULTS Potential bias in the description of the phenotype eme...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.2.e4