Angelman syndrome is caused by uniparental disomy (both chromosome 15 copies from one parent), specifically maternal gene deletion with paternal gene duplication, characterized by microcephaly, happy puppet facies, developmental delay, and hyperactivity, with chromosome 15 involvement.
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Angelman Syndrome Explained Simply | High-Yield Genetics for NEET PG / INI-CETAdded:
Hi everyone, my name is Dr. Anand. A beautiful day today. A very short crisp video regarding one important syndrome.
The picture is in front of you. Now, this picture very importantly is nothing but a Angelman syndrome. Very recent exam question for Angelman syndrome.
What are the important points for Angelman syndrome? We all know that Angelman syndrome comes under uniparental disomy. Uniparental disomy.
Normally one gene comes from the father and one gene comes from the mother. But if you have both genes coming from the father or from the mother, that is uniparental, same parent disomy.
What are the examples of uniparental disomy? Number one, Angelman syndrome.
Number two, Prader-Willi syndrome.
Number three, Russell-Silver syndrome.
Very three hot topics for exam purpose.
Let's talk about Angelman syndrome. So, Angel, Angel is the mother. So, in Angelman syndrome, mother maternal gene is deleted and paternal gene is doubled.
That is the first thing. And second, what are the important highlights for Angelman syndrome? Remember a simple mnemonic. There was a micro puppet show.
There was a micro puppet show which got delayed by 15 minutes and that made the mother hyperactive. There was a micro puppet show which got delayed by 15 minutes and that made the mother hyperactive. So, micro puppet show, micro for microcephaly, puppet for happy puppet faces. Micro puppet show which got delayed, delayed for developmental delay. Micro puppet show which got delayed by 15 minutes. So, chromosome number 15 involvement is there and that made the mother hyperactive. So, mother for maternal gene is deleted and paternal gene is doubled and the patient is hyperactive and happy puppet faces is the image based question they ask in exam. So, these are the important points regarding Angelman syndrome. And thank you so much everyone. All the videos are going crazily amazing. All thanks to you. God has been kind. Please take care and thank you.
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