Talk:22q11.2 deletion syndrome

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Contents

Redirect from Craniofacial syndrome

There is a re-direct from Craniofacial syndrome to 22q11.2 deletion syndrome; this is incorrect. Craniofacial syndrome is a general term, encompassing multiple diagnoses besides velocardiofacial syndrome, which is another term for 22q11.2 deletion syndrome. DLaub 15:40, 27 July 2006 (UTC)

So should we delete the redirect, or can you write a stub/redirect it to a correct article?-- Piotr Konieczny aka Prokonsul Piotrus  talk  15:58, 27 July 2006 (UTC)

Cause

The disease is related with genetic deletions (loss of a small part of the genetic material) found on the long arm of the 22nd chromosome. Some patients with similar clinical features may have deletions on the short arm of chromosome 10.


The first sentence is very poor English.

The term used should be "related to" not "related with". But the context is wrong. Perhaps the rest of the sentence has been left out. It may have originally said something like - "The disease is related with/to other conditions that have blah blah blah and is caused by genetic deletions blah blah blah".

On the other hand hand, the writer mmay have meant - "The disease is associated with genetic deletions....."

I presume that we may be bold and use the term "caused by" but if this is going to far, please correct it to "associated with". However, "related with" is meaningless.

I agree the first paragraph could be worded better, but remember this is for all audiences. The title of the page in 22q11.2 deletion syndrome, so it needs to directly correlate the deletion with the syndrome,but all the manifestations from the deletion could be better addressed.GetAgrippa 04:30, 2 September 2006 (UTC)

Definitely the second paragraph is confusing and perhaps CATCH 22 syndrome would be a better word choice??GetAgrippa 04:33, 2 September 2006 (UTC)

DiGeorge Confusion

In order to address the confusion might I suggest the use of CATCH 22 syndrome. I put in for a start. Others who amend add references as I will follow when this develops.GetAgrippa 04:30, 2 September 2006 (UTC)

Before changing the title of this page to CATCH22 syndrome i think we should explain the actual meaning of CATCH22: Cardiac Abnormality, T cell deficit, Clefting, Hypocalcemia.Gian.M 11:05, 2 November 2006 (UTC)

I have also changed "disease" to "syndrome" feeling that the latter description is more accurate.

--Amandajm 23:39, 27 July 2006 (UTC)

Fusing DiGeorge syndrome proposal

Since the leading cause of DiGeorge and velocardiofacial syndromes is 22q11.2 microdeletions, then it is reasonable to merge and complete the DiGeorge stub in this article. I vote to merge.GetAgrippa 00:30, 15 September 2006 (UTC)

  • Merge - otherwise there will also have to be separate articles for all the other 22q11.2 microdeletion syndromes which currently redirect here. --apers0n 06:03, 15 September 2006 (UTC)

The autosomal dominant diagram is a nice addition. Thanks Apers!. GetAgrippa 11:35, 15 September 2006 (UTC)

The merger is complete, I've removed the tag. --apers0n 05:53, 4 October 2006 (UTC)

1/1800 or 1/4000?

At the beginning of the article it was mentioned that "It has a birth incidence estimated at 1:4000", but in the "Epidemiology" there is another number: "22q11.2 deletion syndrome affects an estimated 1 in 1800 live births". Why?_Vi 22:52, 24 October 2006 (UTC)

I caught that too, I have changed the 1/1800 figure to 1/4000 to better reflect what I have read about the disorder, and also added a fact tag, because this number really needs a source. 68.116.202.72 20:07, 6 September 2007 (UTC)

CATCH-22

Maybe I missed it, but someone should define CATCH-22 within the article. I'm not sure where it would fit best, but it's a helpful acronym worth flushing out more clearly. C = cardiac defects, A = abnormal facies, T = thymic hypoplasia, C = cleft palate, H = hypoparathyroidism, 22 = microdeletion in chromosome 22. -- 21 dec 2006, Anonymous user (was unsigned, so I re-signed it for him\her CopperKettle 05:58, 28 February 2007 (UTC))

Done. --CopperKettle 06:15, 28 February 2007 (UTC)

I don't understand why the acronym is supposedly "widely rejected" because of it's connotation. The pancreatitis post uses the acronym GET SMASHED even though it obviously has negative connotations. It's just used as a mnemonic. —Preceding unsigned comment added by 68.32.119.69 (talk) 10:47, 13 May 2008 (UTC)

Lancet review

This was reviewed in a Lancet seminar this week: doi:10.1016/S0140-6736(07)61601-8 JFW | T@lk 19:25, 20 October 2007 (UTC)

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  • This page was last modified on 15 May 2008, at 03:50.

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