A 45-year-old member asked:
what causes angelman syndrome?
3 doctor answers • 6 doctors weighed in
Dr. Mark Diamondanswered
Pediatrics 46 years experience
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.
5.8k viewsReviewed >2 years ago
Dr. Oscar Novickanswered
Pediatrics 58 years experience
Gene disorder: It is caused by a lack of duplication of mothers gene on chromosome 15 two genes may be involved. Ube3a or oca2.
5.3k viewsAnswered >2 years ago
Dr. Richard Robertsanswered
Pediatrics 46 years experience
Dx 90% lab, 10% PE: A clinical geneticist can make a diagnosis by observing the combination of unusual behavioral features and severe developmental delay, usually by 2 years of age. 90% confirmed by convoluted genetic testing, 10% by clinical presentation alone. Treatment includes the full range of therapies for developmental delay, especially speech therapy initially concentrating on nonverbal communication.
2.7k viewsAnswered >2 years ago
1 comment
Dr. Richard Roberts commented
Pediatrics 46 years experience
Provided original answer
For a complete review, see http://www.ncbi.nlm.nih.gov/books/NBK1144/
Jun 24, 2015
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Similar questions
A 34-year-old member asked:
Is angelman syndrome dominant or recessive?
1 doctor answer • 3 doctors weighed in
Dr. Ankush Bansalanswered
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.
6.1k viewsReviewed >2 years ago
A 35-year-old member asked:
What sort of problem is angelman syndrome?
1 doctor answer • 2 doctors weighed in
Dr. Colin Kerranswered
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.
6k viewsReviewed >2 years ago
A 47-year-old member asked:
What is the population affected by angelman syndrome?
1 doctor answer • 3 doctors weighed in
Dr. Alan Alianswered
Psychiatry 32 years experience
Angelman s.: Newborns with genetic abnormality involving chromosome #15q ( partial deletion of short piece of that chromosome).
5.4k viewsReviewed >2 years ago
A 45-year-old member asked:
What is the probability of inheriting angelman syndrome?
1 doctor answer • 2 doctors weighed in
Dr. Johanna Frickeanswered
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.
5.5k viewsReviewed >2 years ago
A 48-year-old member asked:
Lacking ubiquitin causes the sign and symptoms of angelman syndrome, is that true?
1 doctor answer • 3 doctors weighed in
Dr. Walter Husaranswered
Neurology 33 years experience
Lacking enzyme: Angelman Syndrome lacks a functioning ubiquitin ligase enzyme used in the metabolism of ubiquitin.
3.9k viewsReviewed >2 years ago
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Last updated Oct 4, 2016
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