Talk:17q12 microdeletion syndrome

This review is transcluded from Talk:17q12 microdeletion syndrome/GA1. The edit link for this section can be used to add comments to the review.

Reviewer: Bibeyjj (talk · contribs) 12:42, 15 February 2021 (UTC)[reply]

Hi Vaticidalprophet! I'm happy to take up the review of 17q12 microdeletion syndrome. I have just studied partial chromosome deletions at university, so this article is of particular interest to me. Thank you for all the work you have done on the article so far.

I will be using the "GABox" template to keep track of general progress. A comment on each criteria, and whether it has been passed or failed, will be put in relevant sections below. I will aim to respond to queries as fast as I can, although my availability of free time varies significantly through the week! Thanks! Bibeyjj (talk) 12:42, 15 February 2021 (UTC)[reply]

GA review (see here for what the criteria are, and here for what they are not)
It is reasonably well written. a (prose, spelling, and grammar): b (MoS for lead, layout, word choice, fiction, and lists): It is factually accurate and verifiable. a (references): b (citations to reliable sources): c (OR): d (copyvio and plagiarism): It is broad in its coverage. a (major aspects): b (focused): It follows the neutral point of view policy. Fair representation without bias: It is stable. No edit wars, etc.: It is illustrated by images, where possible and appropriate. a (images are tagged and non-free images have fair use rationales): b (appropriate use with suitable captions):
Overall: Pass/Fail:
· · ·

1a: Pass. The prose is clear and conveys information well. I personally have a preference for fewer compound sentences, but this is a personal preference, and just a suggestion for one or two longer sentences. The spelling is perfect. The grammer is perfect. Bibeyjj (talk) 21:55, 15 February 2021 (UTC)[reply]

• Presentation - Consider adding "(RCAD)" after "renal cysts and diabetes syndrome", as this acronym is used many times, and should be clarified.

Hi Vaticidalprophet! Thank you for adding this acronym! Bibeyjj (talk) 09:19, 16 February 2021 (UTC)[reply]

1b: Hold. Does not comply with WP:MEDORDER - "Presentation" would be better sectioned into "Signs and symptoms" and "Causes", "Prevalence would be better sectioned as "Epidemiology", and "Microduplication" can probably remain as it is. Complies with WP:LEAD. Complies with WP:LAYOUT. Complies with WP:WTW. WP:WAF does not apply as the article as about factual content. Complies with WP:Embedded list as no lists in the article, and none needed. Bibeyjj (talk) 21:33, 15 February 2021 (UTC)[reply]

​Few days later, been thinking about this. I changed Prevalence to Epidemiology as you first said it (embarrasingly common mix-up for me), but I wonder if this is a case where strict MEDORDER compliance would decrease readability/relevance for readers regarding the cause going in its own section rather than being mentioned in Epidemiology. There's not a lot to say about the cause (autosomal dominant, usually de novo, here's a picture about what that means, done), and the article already has a two-sentence section as is -- imo, articles with several short sections tend to look abbreviated/unfinished. (For what it's worth on Presentation vs Signs and symptoms, MEDORDER explicitly calls out the former as an acceptable name for that section.) Vaticidalprophet (talk) 23:50, 18 February 2021 (UTC)[reply]

Hi Vaticidalprophet! I completely accept what you say about "Prevalence" and "Signs and Symptoms" - that's fine to leave as it is. I understand what you mean about the current limited information on "Cause" in the Wikipedia article. However, there are scholarly sources available. Some of the information from the section titled "Why did the 17q12 microdeletion occur?" in reference 1 might be useful. I think it is important to clarify that the disease is usually "de novo" and may be inherited - you have already mentioned this in "Epidemiology", but without an inline reference. There are certainly a few sentences that can be written! (N.B. I notice a bit of information on the cause of 17q12 microduplication syndrome in reference 13, although I'll leave this to your judgement if this is relevant to the article). Bibeyjj (talk) 09:27, 19 February 2021 (UTC)[reply]

​ Done some expansion/moving around/citing/other assorted modifications. Vaticidalprophet (talk) 00:22, 22 February 2021 (UTC)[reply]

Pass. Thank you for doing this - all the major aspects are arranged in accordance with WP:MEDORDER. Bibeyjj (talk) 09:05, 22 February 2021 (UTC)[reply]

2a: Pass. There is a good coverage of references across the article. References are formatted correctly in accordance with WP:FNNR. There are a number of sentences which do not have an inline reference, even though the information is already available in a source - for example, in the "Diagnosis" section, reference 10 should be "reused" for the first sentence as well as the second. This is a minor issue. Bibeyjj (talk) 22:15, 15 February 2021 (UTC)[reply]

2b: Hold. Reference 1-14 have been checked (more to be checked). 12 references are from reliable journals, while 2 are from a respected charity that deals with chromosomal disorders. None of the references are duplicated. There are a few issues with the verifiability of information in the Wikipedia article - these may be my own misreading of the sources, and are likely to be fixable. Bibeyjj (talk) 08:56, 16 February 2021 (UTC)[reply]

• Reference 1 - This does not appear to represent inline reference a in "Presentation" - would you mind pointing out the part of the document that supports the statement in the Wikipedia article?

"Less often, 17q12 microdeletions are inherited from a parent with the same microdeletion. Generally the parents appear to be affected by the microdeletion, although the degree can be very variable; in some cases these parents are just mildly affected and would go undiagnosed until they are tested to follow up the genetic findings in their children (Moreno De Luca 2010; Unique)" (p. 13) Vaticidalprophet (talk) 10:10, 16 February 2021 (UTC)[reply]

Thank you for pointing this out! Bibeyjj (talk) 14:25, 16 February 2021 (UTC)[reply]

• Reference 2 - This does not appear to represent inline reference a in "Presentation" - would you mind pointing out the part of the document that supports the statement in the Wikipedia article?

The study's focus is the phenotypic variance between family members. It doesn't explicitly quote the conclusion as ref 1 does, though. Is there an alternate phrasing about familial variance you might be more happy with? Vaticidalprophet (talk) 10:10, 16 February 2021 (UTC)[reply]

I see what you mean about the study linking the family inheritance together. It would certainly be worth changing the word "cases" to " adults" to clarify this, but the study does support the Wikipedia article. Bibeyjj (talk) 14:25, 16 February 2021 (UTC)[reply]

• Reference 4 - I can't find a description of the "1/62,500" lowest prevalence in this reference. Would you mind pointing this out to me?

See per ref 11. Vaticidalprophet (talk) 10:10, 16 February 2021 (UTC)[reply]

Thanks! Bibeyjj (talk) 14:25, 16 February 2021 (UTC)[reply]

• Reference 8 - This does not appear to represent inline reference b in "Presentation". The prevalence of both autism and schizophrenia is stated to be 1 in 591 and 1,585 respectively.

The numbers are rounded for readability, so I've qualified them with 'approximately'. 1/1585 being rendered as 1/1500 rather than 1/1600 is a legitimate transcription error on my part -- fixed. Vaticidalprophet (talk) 10:17, 16 February 2021 (UTC)[reply]

Thank you for fixing this. It's always a debate as to how much to round data from studies, particularly those with smaller percentages of a population affected, and I think the balance is right. Thank you for qualifying the approximate nature of this as well. Bibeyjj (talk) 14:25, 16 February 2021 (UTC)[reply]

• Reference 9 - This is a case report, although a good one.

This is the "extremely rare/underdiagnosed disorders" issue again (see #14) -- case reports are bad form for anything more common than this, but unavoidable around this prevalence/recognition range. There are so few reported cases total that a case series of 2 isn't trivial. Vaticidalprophet (talk) 10:49, 16 February 2021 (UTC)[reply]

I completely agree, just wanted to document the study here for future reference. Bibeyjj (talk) 14:25, 16 February 2021 (UTC)[reply]

• Reference 10 - This should be used for an additional inline reference for the first sentence in "Diagnosis".

I have been bold and added this fix myself as per WP:GAN/I#R2 and WP:BOLD. Bibeyjj (talk) 14:25, 16 February 2021 (UTC)[reply]

• Reference 11 - I can't find a description of the "1/14,000" highest prevalence in this reference. Combined with my earlier comment about reference 4, it would probably be better to state "General prevalence could be a high as 1/14,000 [4] or as low as 1/62,500 [11]."

This came from both references, yes. I'll move the refs around accordingly. Vaticidalprophet (talk) 10:10, 16 February 2021 (UTC)[reply]

Thank you for clarifying this in the article! Bibeyjj (talk) 14:25, 16 February 2021 (UTC)[reply]

• Reference 12 - Sadly, I have been unable to access the full text of this article for verification. None of the four inline references a, b, c, or d could be verified based on the Abstract alone.

"Neurological symptoms were the most common ones: nine patients had developmental delay/intellectual disability and three had seizures." (out of a sample of 12, which is...about as many as you can get for something with this prevalence)

Towards the end of a list on previous reports: "as well as a complex phenotype consisting of sex reversal, heart, and ocular anomalies [Mencarelliet al., 2008]" (I was unable to find Mencarelliet et al 2008 itself)

"Inheritance is known in six cases with parents being symptomatic only in three of them." (and the symptomatic parents appear to have milder phenotypes still; the case the article discusses most has fairly severe disabilities, and a father with the microdup whose phenotype in full is 'diabetes')

2/12 patients had syndactyly and 2/12 had microcephaly. "Facial dysmorphisms, although only mild, were noted in four individuals." Vaticidalprophet (talk) 10:34, 16 February 2021 (UTC)[reply]

Thank you for finding the relevant passages - this is all fine! Bibeyjj (talk) 14:25, 16 February 2021 (UTC)[reply]

• Reference 13 - I would disagree with the use of this source for inline reference a. The document describes a variety of physical symptoms associated with 17q12 microduplications.

What specifically do you disagree with for ref a? It's stated comparatively in a way the article itself isn't, but that's a matter of how it's presented (vis-a-vis the microdup doesn't really have enough information to support a separate article, so is discussed mostly comparatively). The statements are both supported within the article (intellectual range for symptomatic cases involves more ID and at more severe levels -- severe ID isn't really common in the deletion -- and physical health is "[o]therwise generally healthy" (p. 4), with the diabetes and renal issues that are common in the deletion being much rarer). Vaticidalprophet (talk) 15:03, 16 February 2021 (UTC)[reply]

Obviously, having a comparison to 17q12 microduplication (as a comparison) is very helpful. The source in question does claim that children with the condition are "otherwise generally healthy" as you cited - I imagine this is why you included it in the Wikipedia article. However, the same source goes on to describe hypotonia (making swallowing and sucking difficult), GORD, and potential difficulty with walking and prehension, particularly in early childhood. You also (correctly) used the source to cite information about syndactyly and certain facial features. All I would say is that the source makes clear that the major physical problems occur in early childhood, and that these may improve over time with care. As you say in the Wikipedia article, the physical symptoms are usually less severe, but this tends to be after early childhood. I will have a further read of the information in the source. Thanks! Bibeyjj (talk) 16:09, 16 February 2021 (UTC)[reply]

On second thought, the statement "physical health is often better" is representative of most people with 17q12 microdeletion. I was being overly harsh on the wording there. This is a fair representation of the reliable source. Bibeyjj (talk) 09:10, 22 February 2021 (UTC)[reply]

• Reference 14 - This is a case report, although a good one.

It's an extremely rare disorder, so I'm afraid that's as good as we have for this (there are a couple other disorders in similar situations where I've wondered about the ability to write an article for them at all); the illustration is that autism is thought to be much rarer in the microduplication than the microdeletion, and the case study is accordingly "this is the primary/only confirmed case of it we have". Vaticidalprophet (talk) 10:10, 16 February 2021 (UTC)[reply]

I completely agree, just wanted to document the study here for future reference. Bibeyjj (talk) 14:25, 16 February 2021 (UTC)[reply]

Pass. I'm happy that all of the issues regarding references have been addressed. All of the references have been properly defended, with the occasional rewording in the Wikipedia article to more fairly represent them. Thanks for being really proactive with this! Bibeyjj (talk) 09:10, 22 February 2021 (UTC)[reply]

2c: Hold. Most of the inline references well represent their reliable source. There are still some statements which remain without an inline reference. Moreover, with so many references not fully representing this source, some progress in references needs to be made before this criteria is passed. Bibeyjj (talk) 09:04, 16 February 2021 (UTC)[reply]

Pass. Reference issues nearly all clarified, showing that the article is backed up by reliable scholarship. Bibeyjj (talk) 14:27, 16 February 2021 (UTC)[reply]

2d: Pass. As far as I can tell, there is no plagiarism in the article. I have run the whole article through a plagiarism detector, which found nothing. The references used have not been plagiarised. Bibeyjj (talk) 08:59, 16 February 2021 (UTC)[reply]

3a: Pass. All of the major aspects of the article are well-addressed. The article gives a good general overview of the subject. Bibeyjj (talk) 09:06, 16 February 2021 (UTC)[reply]

3b: Pass. Most of the article gives excellent detail on the condition, particularly with regards to signs, symptoms, causes, and epidemiology. Bibeyjj (talk) 09:15, 16 February 2021 (UTC)[reply]

4: Pass. Has a neutral tone and reference-based approach in dealing with a scientific topic. No controversial topics. Good wording and handling of the condition's relations to other conditions. Bibeyjj (talk) 21:37, 15 February 2021 (UTC)[reply]

5: Pass. No edit conflicts in (fairly short) article history. Talk page checked for conflicts, and none have occurred. Bibeyjj (talk) 13:12, 15 February 2021 (UTC)[reply]

6a: Pass. Both images available for free use (one in the public domain, one CreativeCommons). Bibeyjj (talk) 13:14, 15 February 2021 (UTC)[reply]

6b: Pass. Both images are helpful. Both follow WP:CAP with appropriate captions. It is a shame that more images related to the syndrome don't exist. Would it be possible to include one more image of a related condition (made more likely by 17q12 microdeletion), such as autism or schizophrenia? Bibeyjj (talk) 13:28, 15 February 2021 (UTC)[reply]

It's quite an image-light subject -- I don't think I can fit more in, especially with the length of the article (it was difficult to even fit in the second). I was hoping to find some images of people with it to demonstrate phenotypes, but couldn't get anything appropriately licensed and am unsure about the ability to fair-use that. The psychological conditions it causes are IMO not best represented through images. Vaticidalprophet (talk) 16:15, 15 February 2021 (UTC)[reply]

Hi Vaticidalprophet! That's absolutely fine, just a thought. I had a sweep of Wikipedia Commons for more images - as you say, there aren't any images of the phenotype. Bibeyjj (talk) 19:36, 15 February 2021 (UTC)[reply]

Just to follow up from that. I have put the "Image requested" template on the article talk page specifying the need for an image of the facial phenotype. Hopefully someone who sees this will oblige in the future! Bibeyjj (talk) 22:03, 15 February 2021 (UTC)[reply]

Hi Vaticidalprophet! I just wanted to give an update following my first sweep of the article against the criteria. Overall, the article is doing well, with excellent spelling / punctuation / grammar, a good coverage of references, no plagiarism, a neutral scientific tone, no edit warring, and useful images. The main area for improvement before the article can pass is the verifiability of references. I hope that the references that have been brought into question can be backed up with citation from the references - I may be missing something from them! Thanks! Bibeyjj (talk) 09:25, 16 February 2021 (UTC)[reply]

Hi Vaticidalprophet! Congratulations - 17a12 microdeletion syndrome has passed Good Article Review. Thank you for being so proactive and friendly in resolving issues and keeping me informed of changes. You've worked really hard to get the article to the current standard. All of the issues mentioned before have been addressed, and all of the criteria are met. Hoping you are well, Bibeyjj (talk) 09:44, 22 February 2021 (UTC)[reply]