Talk:XXXYY syndrome

Did you know nomination

The following is an archived discussion of the DYK nomination of the article below. Please do not modify this page. Subsequent comments should be made on the appropriate discussion page (such as this nomination's talk page, the article's talk page or Wikipedia talk:Did you know), unless there is consensus to re-open the discussion at this page. No further edits should be made to this page.

The result was: promoted by Lightburst talk 18:06, 3 October 2023 (UTC)

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• Comment or view
• Article history

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• ... that there are eight known men with three X and two Y chromosomes? Source: Verhoeven, Willem MA; Egger, Jos IM; Mergler, Sandra; Meijer, Tom AA; Pfundt, Rolph; Willemsen, Marjorlein H (2022). "A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype". International Journal of Genetic Medicine. 15 (1): 2799–2806. doi:10.2147/IJGM.S348844. PMC 8921824. PMID 35300132.; Alekri, Ali; Busehail, Maryam; Rhayel, Noorhan; Almosawi, Sayed Mohamed (2023). "XXXYY variant of Klinefelter syndrome: A case report". International Journal of Health Sciences. 17 (3): 39–45. PMC 10155245. PMID 37151746.
  • Reviewed: Template:Did you know nominations/Carla Vernón
  • Comment: This is a CALC situation, per WT:MED#CALC and prevalences. These are two very recent literature reviews inspired by the discovery of new cases, but they don't know each other exists, so they each report seven. "Men" could be tweaked if it's considered misleading re. age, but I think it's the least bad option -- "males" is clinical (but arguably what we should go for, so, work it out in post?) and not specifying sex seems very inclined to mislead readers, who (despite my best efforts at DYK to rectify this) do not universally understand sex chromosome aneuploidies off the top of their heads.

Moved to mainspace by Vaticidalprophet (talk). Self-nominated at 08:55, 27 September 2023 (UTC). Post-promotion hook changes for this nom will be logged at Template talk:Did you know nominations/XXXYY syndrome; consider watching this nomination, if it is successful, until the hook appears on the Main Page.

General: Article is new enough and long enough
New enough: Long enough:

Policy: Article is sourced, neutral, and free of copyright problems
Adequate sourcing: Neutral: Free of copyright violations, plagiarism, and close paraphrasing:

Hook: Hook has been verified by provided inline citation
Cited: Interesting:

QPQ: Done.

Overall: @Vaticidalprophet: I think you've met all the requirements pretty comfortably, including the QPQ review. Well done at explaining this tricky situation, and to be honest, I agree with what both you and @Ajpolino: wrote in the original discussion: accuracy is the most important thing here, and maybe you could just add a brief footnote to further justify the eight-case count. About the hook itself, I actually think you should stick to "males", since the first cited article explicitly acknowledges two cases in infants, and you used that term in the article's lead section, anyway... Still, great job overall! Oltrepier (talk) 15:51, 28 September 2023 (UTC)

• I came up with two ALTs overnight while thinking about the optimal-terminology thing, which I think are both usable:
  • ALT0a: ... that there are eight known males with three X and two Y chromosomes?
  • ALT0b: ... that there are eight known men and boys with three X and two Y chromosomes?
• I think this is reasonable promoter-preference. I was thinking about a footnote during my original write-through, but when writing out the History section I noticed this also gets directly at the CALC ("five known cases" at the end of the 20th century + "three known cases in the 21st century"). Do you think that section is reasonably clear enough re. showing one's work? Vaticidalprophet 02:46, 29 September 2023 (UTC)

@Vaticidalprophet: Very good point about that section! I think we should be fine, then. However, there's another issue I forgot to address... Since the first officially registered case traces back to 1963 (and that patient was already an adult), it is likely that at least one or two of these patients are not with us anymore, so I'm not sure if present simple ("are") could be the right verb form for the hook... What about using present perfect? Oltrepier (talk) 20:26, 29 September 2023 (UTC)

Reasonable enough: how are we here?

• ALT0c: ... that there have been eight known males with three X and two Y chromosomes?
• ALT0d: ... that there have been eight known men and boys with three X and two Y chromosomes?

Vaticidalprophet 03:45, 30 September 2023 (UTC)

@Vaticidalprophet: ALT0c looks good to go. Thank you for your patience and input! Oltrepier (talk) 14:02, 30 September 2023 (UTC)

Chromosone disorder vs abnormality

I noticed this article terms it a "chromosome disorder" while the Wikipedia article on the subject is listed under "chromosome abnormality". If you search Google scholar the latter is more common by 5-10 times. The google dictionary tells me that disorder is defined as "an illness or condition that disrupts normal physical or mental functions", but I'm not sure if this is the case for all chromosome abnormalities. (t · c) buidhe 03:18, 28 September 2023 (UTC)

I don't love either term, but this one is as-far-as-we-can-tell fairly impairing, so I think "disorder" is accurate in at least this case. There are others I'd probably intro-sentence as "anomaly" (rather than "abnormality"), e.g. if I ever work on the lead of XYY syndrome. Double-checking the others I've worked on all use "disorder", but that of course doesn't necessarily mean it's the Objective Best Term. I'm really hesitant to use "abnormality" across the whole suite, which feels more stigmatizing than "disorder". If there should be a standard use across the suite that isn't the current use of "disorder", that probably needs wider discussion. It's possible there's a minor engvar impact here -- I see "chromosome disorder" more often in BrEng, e.g. patient group use seems to differ on that. Vaticidalprophet 03:28, 28 September 2023 (UTC)

Of the several bolded terms in the article (from Google Scholar results since the beginning of 2022):

• "chromosome abnormality" = 1,250 or "chromosomal abnormality" = 4,300
• Chromosome aberration = 2000 or "chromosomal" 3,400
• "chromosome mutation" = 400 or "chromosomal" 687
• "chromosome anomaly" = 200 or "chromosomal" 1,000
• "chromosome disorder" = 189 or "chromosomal" 965

Ideally, I think we would use the same wording across related articles but I don't know how important that is or what the best term would be. (t · c) buidhe 05:19, 28 September 2023 (UTC)

If it helps ICD appears to have switched from "abnormality" in ICD-10 to "anomaly" in ICD-11 - cf. Q97, Q98 and LD50. Little pob (talk) 12:33, 28 September 2023 (UTC)

GA Review

The following discussion is closed. Please do not modify it. Subsequent comments should be made on the appropriate discussion page. No further edits should be made to this discussion.

---

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

Reviewer: RoySmith (talk · contribs) 23:27, 28 September 2023 (UTC)

Lead

• "It is not inherited". This isn't actually stated in the body. Given how rare this is, is there any actual data showing if it is, or is this just a statement that since it's due to a chromosome replication error, it's not inherited by definition? Are there any known examples of XXXYY men who have fathered children? I'm probably nit-picking here.
  • Thanks for picking this one up! I've mentioned "not inherited" in other articles because it seems to be a fairly common query (e.g. chromosome disorder charities mention it a lot in FAQs), and because there are edge cases where it's less true. It's true that for this-specific-one no one's really bothered to note it. I'll see what I can source, which will probably be a generalized "sex chromosome aneuploidies aren't usually inherited" (iirc I have that in a few other articles). Vaticidalprophet 03:07, 29 September 2023 (UTC)

Presentation

• "Adult XXXYY men have generally been reported as having moderate to severe intellectual disability". How does that differ from the previous sentence, "All known cases of the syndrome have been associated with developmental delay or intellectual disability, ranging from mild to profound"? In the next sentence ("the former is defined by an adult cognitive capacity..."), I guess "former" refers to "moderate" and "latter" is "severe", but I think some rephrasing would make this more clear.
  • There are some disorders where e.g. people frequently test higher at younger ages than they do later (because the general population developmental curve grows faster than the one for that syndrome, or because there seems to be some regression in adolescence/early adulthood, or other reasons no one's totally sure of). It stood out to me that the children reported seemed to test somewhat higher than the adults, but it's also true that the sample size is low enough for this to be...unclear. I'll look back over that and see what's due to mention/hopefully simplify and clarify this whole sentence a little. Vaticidalprophet 03:07, 29 September 2023 (UTC)
• You already link aneuplodies, I don't see the need for also having the explanatory footnote (note 1). Or at least follow the same style as you later use for "(incurved pinky finger)" and "(the fusion of the long bones in the firearm") and just run it inline. And while I'm there, "the fusion" -> "fusion").
• You talk about tetrasomy and pentasomy, but I'm not sure what that means. Is "tetrasomy" "4 copies of Y" or "4 sex chromosomes in all"? Maybe being more explicit, i.e. "tetrasomy Y" and "pentasomy Y" would work?
  • Sources are fantastically inconsistent in their use, but "4/5 in all" is more common than "4/5 of one". Vaticidalprophet 03:07, 29 September 2023 (UTC)

  Hmmm, I see you linked to wictionary, but the definition there (https://en.wiktionary.org/wiki/tetrasomic) admits to both meanings, so it's still not clear. Please make a definitive statement in this article which meaning you are (consistently) using. RoySmith (talk) 16:28, 1 October 2023 (UTC)

• "all living XXXYY males", this implies there might also be XXXYY females, which is (as I understand it) not possible? So rephrase this.

Causes

• "Possible causes include fertilization of a normal egg by an XXYY sperm..." I'm not sure how this jives with the earlier statement that this is not inherited. This also raises the question as to how common those non-standard sperm and eggs are?

Diagnosis

No issues.

Prognosis

No issues.

Epidemiology

• Not technically a GA criteria, but single-sentence sections are discouraged. Maybe Diagnosis, Prognoisis, and Epidemiology could all be combined into a single section?

History

• Is there any reason to believe Utah State Training School is notable? If not, then leave it unlinked.
  • Did you know... ...that we have an article on the Utah State Training School Amphitheater and Wall, but not on the Utah State Training School? But yeah, I looked into this one because I was curious what direction it'd fall, and came to the conclusion it's worth redlinking -- it's one of the institutions that's survived into the 21st century, so has a fair amount of coverage on the complicated role that surviving institutions play in society, why they still exist, etc in addition to coverage during its primary era of operation. Wikipedia's coverage gaps mean we have almost no articles on intellectual disability institutions outside a very few like the Willowbrook State School or Judge Rotenberg Educational Center that net unusually high mainstream controversy, but I think a respectable article can be written on this and probably any other institution that survived to the 21st century. Vaticidalprophet 04:13, 30 September 2023 (UTC)
• "To date, three case" Use {{asof}}
  • Done. Vaticidalprophet 04:13, 30 September 2023 (UTC)

General

One question that keeps going through my mind is "when does the nondisjunction event happen"? I assume it must be at the first cell division? Otherwise, you'd have one cell line that was XXXYY and another that was normal, and the resulting fetus would be a chimera of both. This should be clarified.

Thanks for picking this one up, Roy! I've made a couple of notes so far, will look over the article to see how to best implement them. Will hopefully get to the rest soon. Vaticidalprophet 03:07, 29 September 2023 (UTC)

This is interesting: " Liveborn infants with triploidy exhibit multiple congenital anomalies and rarely survive the newborn period. Those that do usually are mosaics for a diploid and a triploid cell line." RoySmith (talk) 15:40, 29 September 2023 (UTC)

Triploidy is another thing for which our article might be at the wrong title? -- the Unique guide to it is much better than our article, but in both cases, it's "an entire extra set of chromsomes" (69 chromosomes rather than 46) rather than extra copies of just one chromosome. The "-ploidy" rather than "-somy" is the big-deal word there. I've wiktionary-linked wikt:tetrasomic and wikt:pentasomic, which should hopefully help with defining those terms. re. aneuploidy footnote, I was actually asked for that in a couple prior GANs, but if you think it's unnecessary I'm happy to remove it. Vaticidalprophet 03:55, 30 September 2023 (UTC)

@Vaticidalprophet I'm not sure where we stand here. I see a couple of things I had called out that haven't been addressed yet. Did we get out of sync? Should I put this on hold for a while? RoySmith (talk) 21:51, 3 October 2023 (UTC)

Am getting to them, don't worry :) I'll be very busy for a couple days, but my intended gameplan is to expand Epidemiology (there's a bit more to say there), contextualize use of tetrasomy/pentasomy, and check back over to see where the prose is standing after that/copyedit as I go. Feel free to put on hold if it works for your workflow. Vaticidalprophet 22:01, 3 October 2023 (UTC)

OK, that's fine, no rush. I just wasn't sure if there was something you were waiting on me to do. RoySmith (talk) 22:13, 3 October 2023 (UTC)

Okay, not extremely busy anymore (and acquired the flu or covid while extremely busy, but that's letting up). I've expanded the Epidemiology section to a reasonable paragraph, based on how that section was structured for similar disorders. A footnote has been added re. tetrasomy/pentasomy. I've also added a clarification re. "not inherited" to Causes explaining that nondisjunction is a random event not generally caused by parental characteristics, and altered the lead a little to clarify this. Regarding "when does it happen", there's a bit to say there...how much of that do you feel is in scope? The mosaicism/multiple cell lines kind of aneuploidy absolutely does happen, but it's a lot rarer than the full kind. Theoretically I could dump several paragraphs in about when nondisjunction happens, but at some point that stops being in scope. I'm genuinely not sure myself where to best cut it. Vaticidalprophet 13:28, 14 October 2023 (UTC)

Taking a look at this now. RoySmith (talk) 18:53, 15 October 2023 (UTC)

Second pass

• You've still got "all living XXXYY males"; see above for why that's confusing.
• almost never recurs in future children. You might want to clarify that "future children" means siblings of the XXXYY, not children of the XXXYY. I'm assuming all XXXYY are infertile, but still worth making this clear. Also, given that there are only 8 recorded cases, I'm confused by the "almost never". Have there ever been any reported cases of siblings who are both XXXYY?
  • I've clarified to "their future children". There are no reported siblings who share an XXXYY karyotype, but some families have multiple children with nondisjunction-related disorders (e.g. Down syndrome), so it's not quite right to say "never" -- the causes here are complex and not really in-article-scope, but it's theoretically possible a family could have an XXXYY child and another child with a nondisjunction-based disorder. (There's also always the possibility of identical twins, which hasn't come up here but has come up for some very rare things.)
    re. "male", this is, well...the recent talk page comment is "not good-faith", let's put it that way, but is a very common thing I hear when talking about these conditions. People tend to perceive sex chromosome disorders in general and male X-polysomy in particular as intersex in some sense, or by much worse terms than that ("hermaphrodite", etc). I tend to lean pretty heavily into repeating gendered/sexed language when writing these articles, because "what sex are these people" is for better or worse the main thing general readers focus on. This results in a little repetition, but my general experience here is that the confusion is much greater around whether "male" or "female" applies to people with SCAs (which is not at all controversial amongst people writing on them). Vaticidalprophet 05:48, 17 October 2023 (UTC)

  I've discussed this off-wiki with somebody who is far more familiar with the molecular biology / genetics than I am. I've come to the conclusion that there's enough here that's beyond my level of expertise that it needs another set of eyes from somebody who's more of a subject matter expert, so I'm going to invoke WP:GAN/I#2O. RoySmith (talk) 18:27, 17 October 2023 (UTC)

  I left that comment while I was logged out, and I'd just like to both apologize for my rudeness and try to clarify what I meant. It was a reflection of my frustration at both (a) not understanding how people can nonchalantly apply the words "male" and "female" in contexts where they have not been clearly defined, and (b) being harassed online (mostly on Twitter, a site I have since left because it's become increasingly hostile to trans people) whenever I point out (a). This is not something that has anything to do with Wikipedia, and I am sorry for dumping my emotional baggage on this talk page.

  That being said, I genuinely do want to know how exactly the terms "male" and "female" are kept straight in contexts where reproductive capacity is often absent entirely, where gender identity is not germane to the discussion, and where chromosomal abnormalities are present that reveal the binaristic "XY means male" model to be patently absurd. What exactly does it mean? I mean, there are chromosomal anomalies that result in ordinary and healthy cisgender women with XY chromosomes. Are they male, as far as biologists are concerned?

  As far as I can tell, the truth is that yes, they are male as far as biologists are concerned; but biologists are neither tasked with, nor interested in, structuring human society. And, well, fair enough. But that still doesn't answer the question of how maleness is defined. If it isn't XY chromosomes (since that wouldn't include people with XXXYY syndrome, and according to this page it should), and it isn't reproductive capacity (since that would mean sterile people are neither male nor female), how exactly do biologists define it? My partner is a trans woman, and her medical paperwork lists her as "male," even though her hormone levels are in line with those of a cis woman, not a cis man. Where do biologists draw the line, and why there? Wehpudicabok (talk) 01:44, 31 October 2023 (UTC)

  Wehpudicabok if the sources don't explain why biologists would consider an XXXYY individual unambiguously male then it cannot be covered on Wikipedia because it would be wp:original research. However, I think it would be useful information to include if it were covered in sources. (t · c) buidhe 04:44, 2 November 2023 (UTC)

2O needed

This needs a second opinion from somebody who is an expert in human genetics. RoySmith (talk) 18:31, 17 October 2023 (UTC)

Second opinion by the reviewer Maxim Masiutin

Reviewer: Maxim Masiutin (talk · contribs) 13:34, 19 November 2023 (UTC)

Lead section

The lead section has 2 paragraphs that is according Wikipedia:Manual of Style/Lead section is commensurate with that of the article. The lead section adequately reiterates the contents of the article in shortened form.

Correct article structure

According to Wikipedia:Manual of Style/Medicine-related articles, there are the following sections recommended for a medical condition. The following list of suggested headings contains wikilinks; the actual headings should not.

• Classification: If relevant. May also be placed as a subheading of Diagnosis. -- There should be a standalone section or a subsescion with classification
• Signs and symptoms or Characteristics or Presentation (subsection Complications)
• Causes: Includes risk factors, triggers, genetics, virology (e.g., structure/morphology and replication), spread.
• Mechanism: For information about pathogenesis and pathophysiology. --No such section; if it is not relevant, an explanation on the Talk page should be given why it is not relevant
• Diagnosis: Includes characteristic biopsy findings and differential diagnosis.
• Prevention or Screening (If the section only discusses secondary prevention, it should follow the treatment section.)-- There is no section on screening; also information on probable prevention should be given if applicable, but if not applicable, there should be a description at the talk page
• Treatment (or Management, especially for chronic conditions) --No such section
• Outcomes or Prognosis. May also be labeled "Possible outcomes" or "Outlook". --No such section
• Epidemiology: factors such as incidence, prevalence, age distribution, and sex ratio.
• History: Early discoveries, historical figures, and outdated treatments (not patient history)
• Society and culture: This might include social perceptions, cultural history, stigma, economics, religious aspects, awareness, legal issues, and notable cases. --If there is no information on this condition, there could be information on related conditions like different variations of X and Y other than XY or XX
• Research directions -- No such section
• Other animals -- Information should be given on other animals with this or similar conditions, but if not appropriate, but if you have no information, explain at the talk page

Target audience

The target audience seems to be for a general reader and the text it looks good for my eyes.

Other considerations on style

The article conforms to the general rules and requirements stipulated at Wikipedia:Manual_of_Style/Medicine-related_articles except where I noted otherwise on specific topics. The article should be clearly written, in good prose, with correct spelling and grammar.

On references

Each paragraph ends with a citation (except the lead), most (if not all) citations are reliable.

On substance

The article broadly covers the topic without unnecessary digressions.

On neutrality

The article is written from the neutral point of view.

On stability

The article is stable, with no ongoing edit wars.

On image use policy

The article complies with image use policy.

Copyright

The article has no obvious copyright violations.

Conclusion

The article is partially compliant. It lacks information that I mentioned in the section #Correct article structure of my review. If this information is added, the article may pass unless new issues will be discovered. Maxim Masiutin (talk) 11:51, 19 November 2023 (UTC)

@Maxim Masiutin @Vaticidalprophet please note that WP:GACR only requires compliance with a subset of WP:MOS; note 1 says, Compliance with other aspects of the Manual of Style or its subpages is not required for good articles so I don't think you can insist on the changes suggested in #Correct article structure. I apologize for not being more specific in my request for a 2O, but I was mostly looking for somebody who could speak authoritatively on the issue of whether XXXYY individuals should be called male. RoySmith (talk) 16:09, 19 November 2023 (UTC)

I agree that these sections are not required, but I meant that for the current article, the sections which I marked as "not pass" are crucial, unless you give a solid explanation on the talk page on why are not needed. If too few information is available on the matter, you can wait for more information is available and expand the article and nominate it again. Alternatively, you may nominate it and hopefully the other reviewer may have different opinion. Still, I hope that you should better contact the editors from WikiProject Genetics for their input and/or place appropriate template that expert opinion is required. My understanding is that GA review is mostly for formal reasons than for the subject matter expertise, therefore, I don't understand why the issues are mentioned are not covered, and consider this article "Fail" the GA requirements, as no solid justification was given on why these sections are ommitted. Please consider renominating the article once the problems have been addressed, or once you got a reviewer you are looking for that is a subject matter expert in genetics. You cannot simply request second opinion and disregard the opinions of other general editors of Wikipedia, waiting only for particular type of GA reviewers. The GA review is supposed to be a quick simplified public and open process. Maxim Masiutin (talk) 16:28, 19 November 2023 (UTC)

I have to disagree with you your opinion that adherence to sections prescribed for medicine-related articles is not required for WP:GACR. By "other aspects of the Manual of Style or its subpages" meant information which is not explicitly mentioned in WP:GACR, whereas the requirement for adherence on section content is mentioned explicitly. "The six good article criteria" lists requirement 1b as the following: "it complies with the Manual of Style guidelines for lead sections, layout, words to watch, fiction, and list incorporation." It wikilinks the "layout" word to Wikipedia:Manual_of_Style/Layout where the article contents is defined. Item 1.2.3 is "Body" and it prescribes "See below for specialized layout" with a wikilink to Wikipedia:Manual_of_Style/Layout#Specialized_layout, which in turn tell the following: "Certain topics have Manual of Style pages that provide layout advice, including:[...] Medicine, for articles on treatments, procedures, medical products, fields of medicine, and other concepts" with wikilink to Wikipedia:Manual_of_Style/Medicine-related_articles#Sections

Therefore, adherence to Wikipedia:Manual_of_Style/Medicine-related_articles#Sections is mandatory for medical articles nominated for GA per GA requirements.

The fact that you were not specific in your request for a 2O does not mean that you could force the second reviewer such as a matter expert in genetics to waiver certain requirements, any reviewer may recheck whether the article fits the basic requirements for a GA such as layout, that is expressly mentioned in 1b of WP:GACR.

Maxim Masiutin (talk) 01:53, 20 November 2023 (UTC)

Acknowledging that I've seen this, not that I agree with it, i.e. WP:ADVICEPAGE. But if you've taken over the review, I'll let you do your thing and work out any issues with the nominator. RoySmith (talk) 02:16, 20 November 2023 (UTC)

@RoySmith by saying "it complies with" in 1b it turns advice into requirement for a GA Maxim Masiutin (talk) 02:26, 20 November 2023 (UTC)

I disagree with the fail, but I'm not interested in relitigating it. (I also disagreed with the 2O reason, and I'm not interested in relitigating it.) I'll renominate the article for a third reviewer later. Vaticidalprophet 02:27, 20 November 2023 (UTC)

We essentially have disagreement not on the understand of the rule of GA, i.e. whether the word "layout" in p.1b of the rules, means whether adherence to Wikipedia:Manual_of_Style/Medicine-related_articles#Sections is mandatory for medical articles nominated to GA. If I am wrong, than I will keep applying wrong judgments on the other articles that I will review in the future. If I am right, than nominating it again to a third reviewer may circumvent the rule if the third reviewer have the same opinion on the first reviewer on understanding of the rules. Maxim Masiutin (talk) 09:00, 20 November 2023 (UTC)

@RoySmith, @Vaticidalprophet: There is a follow-up on [[1]]:

(quote): 'If you consider some particular topic to be an essential "main aspect" of the subject, then it is absolutely correct to say that it should not pass GA unless it addresses that topic.' - this criteria is stipulated in 3a ("addresses the main aspects of the topic"), not 1b.

I considered those topics essential unless it would be given a reason (on a Talk page) on why they are not essential for the topic. Maxim Masiutin (talk) 13:00, 20 November 2023 (UTC)

Sources on XXXYY newborn screening via sex chromosome aneuploidy screening and whole genomic screening and that expressly mention XXXYY in context of screening

XXXYY can be detected by sex chromosome aneuploidy screening and genomic newborn screening. The articles on these methods are at Talk:XXXYY_syndrome#Literature on newborn screening methods that can detect XXXYY syndrome

Articles that expressly mention XXXYY in context of newborn screening are at Talk:XXXYY_syndrome#Articles that expressly mention XXXYY in context of newborn screening Maxim Masiutin (talk) 18:19, 21 November 2023 (UTC)

November 22nd, 2023 Update

2nd reviewer's update: My initial reasoning was that the article lacks information that I mentioned in the section #Correct article structure of my review, so that ff this information is added, the article may pass unless new issues will be discovered. Still, the nominating editor provided solid reasoning on why that requirement was excessive beyound the proper level of criteria defined for the GA, therefore, my initial requirements were excessive for this particular topic and the initial decision was incorrect, therefore, to correct the decision, I have to change the decision on my review result from Fail to Pass. My initial opinion on p.1b of the criteria was incorrect, as suggested by the other Wikipedia editors. For details on the reasoning, see the discussion at [2]

November 22nd review result: Pass. Maxim Masiutin (talk) 07:50, 22 November 2023 (UTC)

The discussion above is closed. Please do not modify it. Subsequent comments should be made on the appropriate discussion page. No further edits should be made to this discussion.

"Males"

On what basis are all individuals with XXXYY chromosomes considered "male"? After all, according to people on Twitter who call me mentally ill for asking the question, "male" specificially means XY chromosomes, and anyone who says otherwise is probably a groomer. 2600:8801:1CA5:700:2DDB:B4F9:58BD:1BDE (talk) 19:56, 9 October 2023 (UTC)

Classification

User:Vaticidalprophet metioned at [[3]] (quote) "this isn't really accurate -- even in the position where some SCAs are intersex that's not applied to all of them, and this isn't one for which the topic has been discussed, so it coatracks to clearly declare it one".

Could you please specify where it was discussed? I reviewed the talk page and didn't find a thorough discussion. I reviewed again the definitions of DSD and Intersex given in the medical literature. These definitions seem to match perfectly, as there are both chromosomal and gonadal deviations, such as (quote): "low testosterone, alongside elevated lutenizing hormone and follicle stimulating hormone", "genital abnormalities are a hallmark of the syndrome", "micropenis and cryptorchidism (undescended testes)", "sparse or absent facial hair", "high-pitched voices".

Please help. Maxim Masiutin (talk) 11:23, 13 November 2023 (UTC)

The terms are fairly slippery, but intersex/DSD as applied to sex chromosome aneuploidies is more contentious than for many other subjects -- the 2006 consensus statement considers some SCAs intersex/DSD but not others, while most other medical or sociological definitions I've read by scholars familiar with SCAs specifically consider them either clearly not examples or borderline cases. Because this specific example is so rare, there's no real analysis of whether it is in and of itself one of the "may or may not be intersex/DSD" cases. There are articles where the SCA intersex/DSD debate is in scope (e.g. if I ever rewrite Klinefelter syndrome it'll need to discuss it a lot, because that's the one for which the definition disagreement between the '06 consensus statement and most later SCA-specific statements is a big deal and extensively covered), but because this one isn't something where it's specifically discussed for the individual disorder, it has COATRACK problems to get into the weeds of that here. Vaticidalprophet 11:31, 13 November 2023 (UTC)

OK, thank you for your thorough explanation, let us avoid this slippery slope. Maxim Masiutin (talk) 12:25, 13 November 2023 (UTC)

Article improvement ideas

Here are some ideas on how the article can be improved:

1. Classification: please consider making it a distinct standalone section or a subsection with classification to navigate the article more easily, find the text there, and better understand the context while skimming it.
2. Mechamism: please consider explaining the mechanism behind those symptoms observed and the mechanism on why this genetic variation happen by briefly describing the underlying mechanisms leading to such genetic outcome.
3. Screening: please consider finding information and explaining in the article all relevant information on the prevention and screening of this condition. It was only mentioned in the article that patients were screened in prisons and institutions, forming an image of such conditions as severely disabling. Still, it was not written anything about newborn screening. Are there newborn screening programs to detect this condition on birth? Is this condition part of routing newborn screen kits or not? Can it be detected pre-birth, such as a finding as a result of prenatal screening for Klinefelter syndrome? If screening newborns or pre-birth is routine, then in which countries? If not, then why? I understand that it is a part of the karyotype test that may be used to screen other more frequent conditions involving sex chromosome abnormalities. Were there arguments for screening newborns for sex chromosome abnormalities or not? Are there advocacy groups that lobby screening other sex chromosome abnormalities that would also cover this symptom? What other genetic conditions or abnormalities are typically included in newborn screening programs? Are there any known cases of XXXYY syndrome being identified through routine newborn screening? What are the potential long-term health impacts and outcomes for individuals with XXXYY syndrome if not detected through newborn screening? Is there a recommended timeframe within which newborn screening should be conducted to accurately detect XXXYY syndrome? Are there any specific challenges or limitations associated with implementing widespread newborn screening for sex chromosome abnormalities like XXXYY syndrome? How does the cost of incorporating XXXYY syndrome screening into existing newborn screenings compare to its potential benefits? Have any studies been conducted on the effectiveness and accuracy of current methods used in newborn screenings to detect sex chromosome abnormalities, including XXYYY syndrome? Have there been any animal studies conducted, such as in mice, to investigate the potential factors that may contribute to an increased or decreased occurrence of milder forms of sex chromosome abnormalities like XXY or XYY? What specific conditions or experimental manipulations in animal models have shown an increase or decrease in the frequency of sex chromosome abnormalities, potentially leading to a noticeable occurrence of XXXYY syndrome? Can findings from animal studies provide insights into the underlying mechanisms that may contribute to the development and manifestation of XXXYY syndrome? Given the rarity of XXXYY syndrome, are there any specific guidelines or recommendations for healthcare providers on when and how to consider newborn screening for this condition? Considering the low prevalence of XXXYY syndrome, what factors should be taken into account when deciding whether to include it in routine newborn screenings? Are there any ongoing research efforts to improve the accuracy and reliability of newborn screening methods for detecting rare conditions like XXXYY syndrome?
4. Treatment or Management: I kindly propose to include information on treatment or management options in the article. It would significantly enhance the quality of the article if even a few sentences could be added, such as a few sentences acknowledging that the treatment options for chronic conditions are not currently known if that is the case. It is important for a well-rounded article on Wikipedia to provide insights into treatment or management, as it adds to the completeness of the information about a disease or medical condition. Thank you so much for considering this suggestion!

Maxim Masiutin (talk) 22:45, 20 November 2023 (UTC)

Literature on newborn screening methods that can detect XXXYY syndrome

Please consider reviewing the literature on new and potential newborn screening methods that can detect XXXYY syndrome, so that information to be included into the article. In this specific case, the newborn and prenatal screening topic is widely covered in reliable literature (secondary sources such as reviews, meta-analysis or books, for example, these are the titles of the publications indexed on MEDLINE about the newborn and prenatal screening for XXXYY syndrome and other conditions of sex chromosome aneuploidy:

1. Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study (PMID 23060046)
2. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women (PMID 29125628)
3. A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention (PMID 31267526)
4. Rapid methods for targeted prenatal diagnosis of common chromosome aneuploidies (PMID 21316319
5. Chromosomal microarray versus karyotyping for prenatal diagnosis (PMID 23215555)
6. Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis (PMID 33201576)
7. Advances in genetic prenatal diagnosis and screening (PMID 25211161) # Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review (PMID 33805390)
8. Genomic newborn screening: Are we entering a new era of screening? (PMID 37403863)
9. Genomic newborn screening-research approaches, challenges, and opportunities (PMID 37831095
10. and so on....

Not all articles may provide relevant information for this article. For instance, articles about prenatal diagnostics may not directly apply to newborn screening because they have different objectives. Newborn diagnostics are usually done when there are known concerns in the family history, while prenatal diagnostics aim to identify conditions during pregnancy. As XXXYY syndrome is not inherited, prenatal diagnostic testing specifically for this syndrome is not necessary. Newborn screening methods such as karyotyping or genome sequencing can still be valuable as they can detect sex chromosome abnormalities, including XXXYY syndrome. Articles about newborn screening can offer insights and information that enhance the content of this article. Incorporating literature and resources related to research directions in newborn screening would be beneficial. These sources can provide information on emerging advancements and future possibilities in diagnosing and managing XXXYY syndrome. Maxim Masiutin (talk) 02:41, 21 November 2023 (UTC)

Articles that expressly mention XXXYY in context of newborn screening

Please also consider writing about newborn screening based on the following articles which expressly mention XXXYY in context of newborn screening:

• "Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review". doi:10.3390/children9111719. {{cite journal}}: Cite journal requires |journal= (help)CS1 maint: unflagged free DOI (link)
• "Can Klinefelter Patients Be Female?: Commentary on Lee Y.S. et al: Genital Anomalies in Klinefelter's Syndrome (Horm Res 2007;68:150–155)". doi:10.1159/000101523. {{cite journal}}: Cite journal requires |journal= (help)
• "Sex Chromosome Tetrasomy and Pentasomy". doi:10.1542/peds.96.4.672. {{cite journal}}: Cite journal requires |journal= (help)

You can also look for similar articles that mention expressly XXXYY in context of newborn screening. Maxim Masiutin (talk) 17:54, 21 November 2023 (UTC)

Wikilinks, short summaries and Transclusion

We strive to provide comprehensive information about the XXXYY syndrome on the Wikipedia page, but we also want to avoid repeating the same content that is relevant to other articles. One way to do this is to use Transclusion, which automatically includes parts of text from one page to another. For example, we could use Transclusion to insert a section about the newborn screening issues common for all variants of sex chromosome aneuploidies (SCA). Alternatively, we could briefly summarize the screening issues and then link to a separate article covering them in more detail. This would help the readers to get a complete overview of the basic concepts, such as screening and management, without having to search for them elsewhere. However, we should be careful not to use Transclusion or linking in a way that violates the GA or FA criteria, such as by creating unstable or inconsistent pages. Another issue we face is that the pages for different SCA variations (i.e., XXY, XYY, XXXX, XXXY, XXXYY, and so on) have different levels of coverage and quality. Some pages have more information than others on topics that are common for all SCA variations, such as meiosis. This creates a problem of imbalance and duplication, as well as a potential for confusion and misunderstanding. We should strive to make the pages for all SCA variations equally informative and accurate by following the same standards and guidelines. One possible solution is to create a separate page that explains the general aspects of SCA, such as meiosis, and then link to it from the pages for each specific variation. This would ensure that the readers can access the same information regardless of which variation they are interested in and that the information is consistent and reliable. This would also make the pages for each variation more focused and concise by avoiding unnecessary repetition and redundancy. Maxim Masiutin (talk) 23:16, 21 November 2023 (UTC)

WikiJournal of Medicine

@Vaticidalprophet, if you wish to find very good reviewers, please consider publishing this article (or any other article) in the WikiJournal of Medicine. It is an academic journal run by the same foundation that runs Wikipedia. The editorial board of the journal will find good reviewers who have works on this or related topics published in academic journals. After you pass the review process, improving the article based on revers' feedback and get the article published, you will be able to copy the contents back to Wikipedia. My experience on WikiJournal of Medicine is very positive. I once was working on an article on alternative androgen biosynthesis and the editorial board attracted the two of the best if not the best specialist in the world on androgen biosyntheisis who had lots of research works and reviews published on androgen biosyntheisis in various academic journals. Therefore, if you wish to find an expert on genetics or conditions like that, WikiJournal of Medicine is the place to find experts. You can see typical articles published there at https://en.wikiversity.org/wiki/WikiJournal_of_Medicine -- for each of the articles, there is a link "Reviewer comments" that shows communication between the reviewers and the authors.

The journal follows a transparent and open peer review process, allowing for constructive criticism and suggestions from multiple reviewers. The editorial board finds at least two reviewers who are experts in the field, but other reviewers may also join. The editorial board is the moderator should any issue arise like disagreement among different reviewers on a particular topic. This can greatly enhance the quality and accuracy of the article submitted there, as well as provide valuable insights and perspectives. The journal is indexed in many catalogs such as Google Scholar or Semantic scholars, but is not yet accepted by MEDLINE, still, I hope MEDLINE will accept it in the future. Maxim Masiutin (talk) 09:44, 22 November 2023 (UTC)