Talk:DiGeorge syndrome

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)

It should be noted that CATCH-22 Syndrome is synonymous with DiGeorge. http://www.ncbi.nlm.nih.gov/pubmed/8230162 and other sources. —Preceding unsigned comment added by 24.30.98.31 (talk) 03:54, 20 January 2009 (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)

More on the name: why not Di George?

In dealing with medical personnel in many fields for 21 years I have never heard it referred to as anything other than Di George Syndrome, with the exception of one recent experience when it was described as Velo-Cardio-Facial (Di George) Syndrome - both terms were used, with Di George added for clarity. A second doctor in the same context just used Di George Syndrome.

The multiple names are due to different researchers describing the syndrome's effects differently at different times as they added to the knowledge in the field. But, Di George is still in common usage as his work took place in the 1960s and preceded by about ten years that of other researchers.

VCFS as an acronym is difficult to retain and decode, 22q11 at least describes the cause, Catch 22 may be a good memory tool but does not seem to be generally accepted. It would be a lot easier to get rid of the confusion and just call it Di George Syndrome. What is important is that there is general understanding and recognition.

AthenaTP (talk) 11:25, 4 May 2009 (UTC)

I understand the technical reasons for why this article is named 22q11 syndrome, however, I agree, I have never heard it called this in clinical practice or heard a patient use the term, and most people doing a google search are looking for DiGeorge. Fuzbaby (talk) 20:33, 24 June 2009 (UTC)

The correct definition of Di George Syndrome

I have been advised by the Institute of Human Genetics Primary Genetic Counsellor that Di George Syndrome should not be refered to as a disease, as it is not a disease.

Di George Syndrome has to be refered to correctly as a Disability. Due to the disabling nature the affects of Chromosone Deletion unfortunately have.

Please bear this fact in mind .

Mr Ian Snowball

--Mr Snowball (talk) 17:32, 13 June 2009 (UTC)

Article categorization

This article was initially categorized based on scheme outlined at WP:DERM:CAT. ---kilbad (talk) 03:03, 7 January 2010 (UTC)

Wikifacts - Fun and Creative

Cognitive impairments

They usually have a borderline normal IQ with most individuals having higher scores in the verbal than the nonverbal domains.

Speech and language

Children often perform lower on speech and language evaluations in comparison to their nonverbal IQ scores.

Both higher and lower verbal IQ! Amazing! Wikipedia - "Where you too can be an anti-elitist!" Larry is my new hero. —Preceding unsigned comment added by 209.58.247.77 (talk) 17:21, 11 May 2010 (UTC)

I have marked the apparent contradiction in the article, and asked the original contributor for the first sentence to comment.-gadfium 21:04, 11 May 2010 (UTC)

This is not a contradiction, and this has nothing to do with elitism or anti-elitism. The "borderline normal IQ" is an average of several subscales. Some genetic disorders affect individual subscales, as suggested in this text. It would be useful if someone could add good citations. The word "contradictory" in the text should be removed. — Preceding unsigned comment added by 77.101.144.253 (talk) 13:19, 6 November 2011 (UTC)

What life expectancy

What Genetic counseling should they be offered ? - Rod57 (talk) 10:09, 24 April 2013 (UTC)

Move

This article should be moved to 22q11.2 deletion syndrome. This is what it is pretty much exclusively called in the literature, and indeed in our article itself. DiGiorgio syndrome is only ever mentioned in the intro, so why is the article under that name? 131.251.254.154 (talk) 13:19, 4 August 2015 (UTC)

Catch 22

I learned about CATCH-22 as a mnemonic in medical school, but since then, I have learned that the term has been considered offensive to parents of children with DiGeorge syndrome. We can leave it in here, as this is an encyclopedic article and as a mnemonic, it can help explain things. But as a term that this condition used to be called, I think it should be mentioned somewhere in here that this term is now considered offensive.--Beezer137 (talk) 03:24, 31 July 2016 (UTC)

Move

Why was this page moved based on the suggestion of an IP 2 years ago that no one responded to? DiGeorge syndrome is the more common name for this condition, and there are more publications on PubMed for DiGeorge syndrome than 22q11.2 deletion syndrome. Did you do any investigation before moving the page? Natureium (talk) 14:25, 21 June 2018 (UTC)

Other than the lede, the article consistently uses the name 22q11.2 deletion syndrome, and it's the name referenced in the majority of sources in the article. DiGeorge syndrome, velo-cardio-facial syndrome, and a few others are now known to be different manifestations of the same syndrome, now commonly known as 22q11.2 deletion syndrome. (See [1]) Bradv 14:32, 21 June 2018 (UTC)

Well of course they are trying to promote that name, that's the name of their foundation. Google scholar gives 24,500 results for DiGeorge sydrome and 6300 for 22q11.2 deletion syndrome, while PubMed gives 3256 for DiGeorge syndrome and 941 for 22q11.2 deletion syndrome. Natureium (talk) 15:00, 21 June 2018 (UTC)

ICD-10 and OMIM both list it as DiGeorge syndrome which, along with the Google scholar and PubMed numbers you have given, point to DiGeorge syndrome being the accepted common name. Sarahj2107 (talk) 15:55, 21 June 2018 (UTC)

I based the move on the text of the article and the sources given in the article. From what I understand, DiGeorge syndrome and Velo-cardio-facial syndrome are now known to be both the same thing, and 22q11.2 deletion syndrome is the new name given to the underlying genetic disorder, analogous to 22q11.2 duplication syndrome.

To be honest, I had no idea this would be controversial, as the text of the article claims 22q11.2 is the correct name, and a comment on the talk page from 2015 raised no objections. If someone feels strongly about this they can open an RM, or we can continue to discuss it informally here. Bradv 23:16, 21 June 2018 (UTC)

• Moved it back. DiGeorge syndrome is the most common name. Needs a formal move request. Have adjusted the body. Doc James (talk · contribs · email) 14:31, 22 June 2018 (UTC)

How about now? Is '22q11.2 deletion syndrome' by now the official name of this syndrome, should the page be renamed? Laurier (talk) 12:46, 12 September 2022 (UTC)

Old page history, etc.

Some old page history that used to be at the title "DiGeorge syndrome" is now at Talk:DiGeorge syndrome/Old history. Graham87 07:34, 29 October 2022 (UTC)

There's also an old to-do list at Talk:DiGeorge syndrome/to do. Graham87 07:38, 29 October 2022 (UTC)

ICD11

Just a note that ICD11 now lists this as N0 CATCH 22 phenotype. --Iztwoz (talk) 09:26, 24 November 2022 (UTC)

OMIM still lists DiGeorge syndrome and there is a section on naming on the page.[2]--Iztwoz (talk) 09:35, 24 November 2022 (UTC)