Doctor insights on:
Angelman Syndrome Dominant Or Recessive
Angelman syndrome: The answer is neither- most cases are not inherited at all. http://ghr.nlm.nih.gov/condition/angelman-syndrome ...Read more
Happy Puppet Syndrom: As is a genetic disorder, a chromosome 15 deletion, characterized by intellectual and developmental delay, sleep disorder, seizures, jerky movements, abnormal gait, autistic behavior and frequent laughter or smiling.No cure is available, anti-seizure medications can be given for the seizures. ...Read more
Angelman syndrome: Individuals with angelman syndrome have a characteristic facial appearance with microbrachycephaly, maxillary hypoplasia, deep-set eyes, and large mouth with tongue protrusion. The gait is jerky and puppet-like and behavior is marked by frequent spells of inappropriate laughter. Severe intellectual disability and speech impairment are usually present, and most suffer from epilepsy. ...Read more
Angelman syndrome: Angelman syndrome is a genetic cause of developmental delay and neurological problems. Affected kids have"flat heads, jerky movements, protruding tongues, and bouts of laughter." infants appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Info at: http://www.Ninds.Nih.Gov/disorders/angelman/angelman.Htm. ...Read more
Variable: Angelman patients lack a good copy of the gene UBE3A from their mothers. This may be the result of uniparental disomy (both chromosome 15's from Dad) or a new mutation on Mom's chromosome. It's tricky and goes beyond Mendel's laws. ...Read more
Early on: Seizures & microcephaly ( small head), developmental delays may present first, characteristic facial features ( e.g., pointed chin) are seen. Later, ataxic ( unsteady) gait hand -flapping, happy demeanor with frequent laughter, intellectual disability, hyperactivity, short attention span, severe language impairment, feeding problems, chewing/mouthing objects, gene involved is on chromosome 15. ...Read more
No: As is a genetic disorder due to dysfunction of a gene (ube3a) on chromosome 15. Patients have developmental delay, problems with movement/balance, happy/excitable personality & problems with speech. See: www.Angelman.Org. The children of some famous people have been diagnosed with as: sons of actor, colin farrell, author, ian rankin, baseball player, dave henderson, & hockey player, peter mcduffe. ...Read more
Angelman s.: Newborns with genetic abnormality involving chromosome #15q ( partial deletion of short piece of that chromosome). ...Read more
Angelman Syndrome: Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their families. ...Read more
Actually, : It's almost always a new mutation. If mom has a translocation on chromososome 15 or has a point mutation of the ube3a gene, the risk goes up. It can be from deletion of 15q11-q13 on the maternal copy of chromosome 15 or from having both chromosomes 15 come from father or act as if they're both from father.Fish test of chr 15 or cgh & methylation are genetic tests used for diagnosis & to test mom. ...Read more
Developmental delay: Described in 1965, infants are normal at birth. There is little or no development of speech the child is usually happy & smiling. There is a large mouth with a protruding tongue, hyperactivity is common. Gait is wide based and ataxic with tremulous movements. Pubertal development is delayed, adult height is less than the 3rd percentile. It is associated with a deletion on chromosome 15. ...Read more
Genetic disorder: Angelman Syndrome is a rare genetic neurological disorder with severe developmental delays and learning disabilities, minimal (if any) speech, and ataxia with a happy disposition and unprovoked episodes of laughter and smiling. It is associated with a mutation in the UBE3A gene. ...Read more
Sometimes: Some cases are due to a mutation carried by the mother. Most are due to spontaneous mutations or epigenetic events in the fertilized egg. So, the risk of Angelman may be inherited, but the disease may be genetic or due to epigenetic factors. It is one of the most complex genetic mechanisms yet discovered, and a clinical geneticist must analyze whether other family members are at up to 50% risk ...Read moreSee 1 more doctor answer
- Talk to a doctor live online for free
- Why is angelman syndrome recessive?
- Is klinefelter syndrome dominant or recessive?
- Is marfan syndrome recessive or dominant?
- Ask a doctor a question free online
- Is down syndrome recessive or dominant?
- Is edwards syndrome dominant or recessive?
- Down syndrome dominant or recessive
- Is down syndrome recessive or dominant trait?
- Talk to a clinical geneticist online for free