Talk:XXXYY syndrome

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)[reply]

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)[reply]

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)[reply]
• 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)[reply]

  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)[reply]

• "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
    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)[reply
    ]
• "To date, three case" Use {{
  asof
  }}
  • Done. Vaticidalprophet 04:13, 30 September 2023 (UTC)[reply]

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)[reply]

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."^[1] RoySmith (talk) 15:40, 29 September 2023 (UTC)[reply]

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)[reply]

@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)[reply]

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)[reply]

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)[reply]

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)[reply]

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

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)[reply]

  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)[reply

  ]

  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)[reply]

  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)[reply

  ]

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

Second opinion by the reviewer Maxim Masiutin

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

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)[reply]

@

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)[reply

]

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)[reply]

I have to disagree with you your opinion that adherence to sections prescribed for medicine-related articles is not required for

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)[reply]

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)[reply

]

@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)[reply]

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)[reply]

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)[reply]

@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)[reply]

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)[reply]

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)[reply]