Syndrome in which there is severe mental retardation and ataxic movement associated with absence of maternal 15q11q13, and the absence of the b 3 subunit of GABA receptor-A.
Angelman syndrome (n; abbreviated AS) is a neuro-genetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genomic imprinting in that it is caused by deletion or i...Found on http://en.wikipedia.org/wiki/Angelman_syndrome
(ān´jәl-mәn) an autosomal recessive syndrome characterized by jerky puppetlike movements, frequent laughter, mental and motor retardation, peculiar open-mouthed expression, and seizures. It can be caused by a deletion on chromosome 15 inherited from the mother; the same deletion inherited from the...Found on http://www.encyclo.co.uk/local/21001
(from the article `Life Sciences`) Epigenetic contributions to disease fall into two classes. One class involves genes that are themselves regulated epigenetically, such as the ... ...carries a mutation, the child will be left with no functional copies of the gene expressed, and the clinical traits of Prader-Willi syndrome will ... [...Found on http://www.britannica.com/eb/a-z/a/74
<syndrome> A dysmorphic mental retardation syndrome, that has generated considerable interest in human genetics as a prototypic example of genomic imprinting in man. ... Usually a sporadic disorder, it is characterised by profound intellectual deficiency, a striking puppet-like ataxic gait and facial features, paroxysmal laughter and seizures...Found on http://www.encyclo.co.uk/local/20973
A condition characterized by severe mental deficiency, developmental delay and growth deficiency, puFound on http://www.encyclo.co.uk/local/22391
A genetic disorder that is characterized by severe mental deficiency, developmental delays, frequent jerky limb movements, microcephaly, seizures, absence of speech and frequent smiling and uncontrolled laughter. Other associated symptoms include sleep disorders, feeding problems, unusual sensitivity to heat, frequent drooling and hyperactivity. .....Found on http://www.pregnology.com/Pregnancy-dictionary/
Chromosomal disorder characterised by microencephaly, feeding and sleep problems, developmental delay, lack of speech and jerky movements.
Found on http://www.encyclo.co.uk/local/20898
Our Angelman syndrome Main Article provides a comprehensive look at the who, what, when and how of Angelman syndrome Angelman syndrome: An important genetic syndrome characterized by severe motor and intellectual retardation, microcephaly (abnormally small head), ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia (f...Found on http://www.medterms.com/script/main/art.asp?articlekey=16928
Type: Term Definitions: 1. microdeletion of 15q-13, of maternal origin, resulting in mental retardation, ataxia, paroxysms of laughter, seizures, characteristic facies, and minimal speech. See: Prader-Willi syndromeFound on http://www.medilexicon.com/medicaldictionary.php?t=87665
No exact match found