A 45-year-old member asked:
what is the probability of inheriting angelman syndrome?
1 doctor answer • 2 doctors weighed in
Dr. Johanna Fricke answered
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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A 34-year-old member asked:
Is angelman syndrome dominant or recessive?
2 doctor answers • 4 doctors weighed in
Dr. Ankush Bansal answered
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.
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A 35-year-old member asked:
What sort of problem is angelman syndrome?
1 doctor answer • 2 doctors weighed in
Dr. Colin Kerr answered
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.
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A 44-year-old member asked:
Are there official recommendations for treating angelman syndrome?
2 doctor answers • 4 doctors weighed in
Dr. Karl Muench answered
Clinical Genetics 61 years experience
Treated, not curable: Available treatments are supportive and symptomatic, not curative.
5982 views
CA
A 34-year-old member asked:
Does the doctor need to do to tests to be sure if the diagnosis is angelman syndrome?
1 doctor answer • 3 doctors weighed in
Dr. Scott McLean answered
Clinical Genetics 35 years experience
Genetic tests help: But tests alone will not confirm the diagnosis in 1 out of 10 children with angelman syndrome. Common signs are very delayed development, speech impairment, and trouble with coordination. A specific and complex checklist is the standard way to establish the diagnosis. Anywhere from 1 to 6 genetic tests are used to confirm the diagnosis and tell us if the condition might happen again in the family.
5972 views
CA
A 34-year-old member asked:
I'm curious. What symptoms go along with angelman syndrome?
1 doctor answer • 2 doctors weighed in
Dr. Jonathan Dissin answered
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.
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Last updated Dec 9, 2013
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