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| Boy and Puppet |
Typical presentation of Angelman syndrome. This portrait, Boy
with a Puppet by Giovanni Francesco Caroto, was an influential tool for Harry
Angelman to describe the genetic disorder.
Short view summary: Genetically, it occurs due to deletion of 15q11-13 from the maternal chromosome [Read Imprinting]. With Imprinted paternal gene and deleted maternal gene, for same locus. This has led to the conclusion that the 2 genes are imprinted within the same region.
One of its clinical feature is happy disposition [same as in
portrait], patient is, always, smiling.
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