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A 43-year-old member asked:

how to know what is angelman syndrome?

1 doctor answer2 doctors weighed in
Dr. Mohammad Homsi
Neurology 33 years experience
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.

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A 34-year-old member asked:

Is angelman syndrome dominant or recessive?

1 doctor answer3 doctors weighed in
Dr. Ankush Bansal
Internal Medicine 17 years experience
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.
A 35-year-old member asked:

What sort of problem is angelman syndrome?

1 doctor answer2 doctors weighed in
Dr. Colin Kerr
Family Medicine 44 years experience
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.
CA
A 34-year-old member asked:

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

1 doctor answer2 doctors weighed in
Dr. Jonathan Dissin
Neurology 39 years experience
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.
A 47-year-old member asked:

What is the population affected by angelman syndrome?

1 doctor answer3 doctors weighed in
Dr. Alan Ali
Dr. Alan Alianswered
Psychiatry 32 years experience
Angelman s.: Newborns with genetic abnormality involving chromosome #15q ( partial deletion of short piece of that chromosome).
A 45-year-old member asked:

What is the probability of inheriting angelman syndrome?

1 doctor answer2 doctors weighed in
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
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.

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Last updated Oct 4, 2016

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