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angelman syndrome chromosomes

A 47-year-old member asked:
Dr. Alan Ali
Dr. Alan Ali answered
32 years experience Psychiatry
Angelman syndrome: It is a Neuro-genetic disorder resulting from abnormality of genes on Chromosome 15 .
Dr. Stephen Southard
15 years experience Internal Medicine
Genetic disorder: Related to a deletion(missing genetic material) from chromosome 15. These children tend to have significant intellectual disability, small heads(micr ... Read More

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A 45-year-old member asked:
Dr. Mark Diamond
46 years experience Pediatrics
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 ... Read More
Dr. Oscar Novick
58 years experience Pediatrics
Gene disorder: It is caused by a lack of duplication of mothers gene on chromosome 15 two genes may be involved. Ube3a or oca2.
Dr. Richard Roberts
46 years experience Pediatrics
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 ye ... Read More
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A 35-year-old member asked:
Dr. Ed Friedlander
44 years experience Pathology
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) ... Read More
A 44-year-old member asked:
Dr. Karl Muench
61 years experience Clinical Genetics
Treated, not curable: Available treatments are supportive and symptomatic, not curative.
A 34-year-old member asked:
Dr. Ankush Bansal
17 years experience Internal Medicine
Neither: Angelman's syndrome doesn't follow simple mendelian genetics. Rather, it's due to de novo single genetic mutations, translocational errors, chromosom ... Read More
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A 43-year-old member asked:
Dr. Walter Husar
33 years experience Neurology
ANGELMAN SYNDROME: Angelman syndrome is a complex genetic disorder that affects the nervous system. Characteristic features of this condition include delayed development ... Read More
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A 41-year-old member asked:
Dr. Gamal Boutros
39 years experience Neurology
Angelman: Happy kids, pleasant disposition, developmental and speech delay, seizures and ataxia(uncoordinated)walking.
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A 36-year-old member asked:
Dr. Mark Diamond
46 years experience Pediatrics
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 ... Read More
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1 thank
A 36-year-old member asked:
Dr. Anna-Kaisa Niemi
16 years experience Clinical Genetics
Most of the time not: Angelman syndrome, while it is a genetic condition, is rarely inherited and thus the risk of it happening again in other children of the same parents ... Read More
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A 36-year-old member asked:
Dr. Jay Park
Dr. Jay Park answered
50 years experience Pediatrics
See below: Hypotonia, unsteady gait, bouts of uncontrollable inappropriate laughter, and intellectual disability are typical symptoms. Correct diagnosis require ... Read More

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