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Angelman\'s syndrome-correction

6 posts in this topic

1. Angelman's syndrome has a paternal cause

FALSE

(Pg 603, Comp to Psych St, 6th Ed, Johnstone et al)

This is TRUE according to the following reference:

Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

Clin Genet. 2000 Jan;57(1):86-7.

Any comments?

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As they were mentioning on Manchester course, the whole Angelman's/Prader Willi has become a lot more complicated. (They had no advice about what he ROyal college stance was likely to be).

In addition to the non-dysjunction (seems like some of the paternally derived genes are methylated and therefore inactive, so if maternal allelle isn't present the syndrome is found), it can be a pure MICRODELETION syndrome (with maternally derived genes deleted) AND there are ALSO cases which have a point mutation in one of the ubiquiton genes (which is thought to be the cause of Angelman's).

How the hell we are meant to answer MCQ's out of this mess I don't know! Wish I knew what went on in examiners brains. Clearly there is some sort of obsession with Angelman's and Prader Willi - as though we're at all likely to see a case of either !!!!!!!

What do others think????????????

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For what it's worth, I think keep it: Angelman - maternal and Prader-Willi paternal - mainly because its probably a question from an older bank of questions, plus supposed to be generalist not specialist knowledge ....

Thats the frustration of these MCQ things - trying to mind read!

Good luck all with the last week!

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1-Angelman syndrom is associated with paternal delition F

2-Angelman syndrom has a paternal cause F . Look At COMPANION TO PSYCH. Page 224 .If has maternal cause THIS IS T.

3-Tau proteins interfere with microtubule formation T. Look At COMPANION TO PSYCH PAGE 294

4-Fragile X has CAG repeats. F . IT IS CGG & AGG

5-Acamprosate blocks glutamate . F. LOOK AT COMPANION TO PSYCH.PAGE 191

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I remember seeing somewhere (can't remember which book) that it was a deletion which was only apparent clinically if from maternally inherited DNA, but that it was the absence of some part of the genetic code that was crucial. Hence, if you have paternal disomy, both chromosomes are paternal and you still lack the maternal DNA, so get the features of Angelmans. At least it makes some kind of sense, ,even if its not necessarily right! Good to know exam questions are as clinically relevant as ever...

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