You won't see me coming....
Angelman syndrome can be difficult to diagnose. It does have a characteristic phenotype and clinical characteristics are best recognised by clinical specialists. It is a genetically heterogeneous condition. About 65% affected have a deletion in the long arm of chromosome 15. A small minority are due to uniparental disomy. Others may have errors in a specific gene or are due to imprinting centre mutations. About 10% of cases cannot be genetically defined.
Many GP's are just as likely to misspell the syndrome, Julia, as will be hard pressed to understand the contribution from Flaxen Saxon.I was also obliged to Google the syndrome and from what I now understand, the unfortunate mother is the victim for whom we should reserve the lion's share of pity.
"I was also obliged to Google the syndrome..." I'd actually heard of it before this.
Good for you!
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