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Doctor insights on: Angelman Syndrome Dominant Or Recessive

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Is angelman syndrome dominant or recessive?

Is angelman syndrome dominant or recessive?

Neither: Angelman's syndrome doesn't follow simple mendelian genetics. Rather, it's due to de novo single genetic mutations, translocational errors, chromosomal abnormalities, or more commonly epi-genetic mutations such as changes in dna methylation. ...Read more

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Dr. Neeta Jain
67 Doctors shared insights

Angelman Syndrome (Definition)

A genetic disorder that causes mental retardation, movement problems, and seizures. Children with Angelman syndrome typically laugh a lot and ...Read more


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Angelman Syndrome and whether the gene is recessive or dominant?

Angelman Syndrome and whether the gene is recessive or dominant?

Angelman syndrome: The answer is neither- most cases are not inherited at all.

http://ghr. Nlm. Nih. Gov/condition/angelman-syndrome ...Read more

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What is angelman syndrome?

What is angelman syndrome?

Angelman syndrome: It is a Neuro-genetic disorder resulting from abnormality of genes on Chromosome 15. ...Read more

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What causes angelman syndrome?

What causes angelman syndrome?

Because..: Most likely due to physical features and some developmental issues. These kids often have some delays. It is a genetic condition due to a defect in the child's chromosomes. ...Read more

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Angelman syndrome information needed?

Angelman: The answer can be found here:
http://www. Ninds. Nih. Gov/disorders/angelman/angelman. Htm. ...Read more

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How to know what is angelman syndrome?

How to know what is angelman syndrome?

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

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Angelman syndrome symptoms include what?

Angelman syndrome symptoms include what?

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

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What sort of problem is angelman syndrome?

What sort of problem is angelman syndrome?

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

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How exactly is angelman syndrome passed on?

How exactly is angelman syndrome passed on?

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

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What are the symptoms of angelman syndrome?

What are the symptoms of angelman syndrome?

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

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Best way to get help for angelman syndrome?

Best way to get help for angelman syndrome?

For your questions: Www. Angelman. Org website has a page for you to fill in your demographics and the specific genetic abnormality that caused your child's angelman syndrome. The angelman syndrome cinic at mass general in boston will also answer parents' questions.617-726-6540. ...Read more

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Did any famous people have angelman syndrome?

Did any famous people have angelman syndrome?

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

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What are common symptoms of angelman syndrome?

What are common symptoms of angelman syndrome?

Angelman syndrome: Severe developmental delays, sleep disturbance, jerky movements, seizures, intellectual deficits, & a happy demeanour. ...Read more

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What is the population affected by angelman syndrome?

What is the population affected by angelman syndrome?

Angelman s.: Newborns with genetic abnormality involving chromosome #15q (partial deletion of short piece of that chromosome). ...Read more

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What is a way to detect a carrier of angelman syndrome?

What is a way to detect a carrier of angelman syndrome?

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

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What is the probability of inheriting angelman syndrome?

What is the probability of inheriting angelman syndrome?

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

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I'm curious. What symptoms go along with angelman syndrome?

I'm curious. What symptoms go along with angelman syndrome?

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

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What is the definition or description of: Angelman syndrome?

What is the definition or description of: Angelman syndrome?

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

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Please tell me if angelman syndrome is inherited or a disorder?

Please tell me if angelman syndrome is inherited or a disorder?

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 more

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