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Tetrasomy X

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This is a post-GA peer review, but not quite a pre-FAC one yet. There are still a few glaring points (most obviously, no photos of anyone with it) to resolve before that point. That said, the general concept of a pre-FAC PR applies here -- I want to take this article to that point, hopefully sooner rather than later, and I want to know what to shore up that I wouldn't know as someone who hasn't gone through the meatgrinder yet. (Is it appropriate to add an "I don't know if this really counts as a FAC PR" to the FAC PR list?)

Thanks, Vaticidalprophet 07:39, 8 April 2021 (UTC)[reply]

Adding it to the sidebar (Template:FAC peer review sidebar) ... please remember to remove it from there when closing the PR. I am quite swamped at the moment, but will get to this sooner or later :) If I am not here within about 10 days, please pester my talk page. SandyGeorgia (Talk) 15:44, 8 April 2021 (UTC)[reply]

Comments by Z1720

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Hi Vaticidalprophet, I am not a medical expert so please consider this a non-expert review. I will review this as if it was an FAC.

General

  • I used User:GregU/dashes.js to fix dashes
  • There is a trend in FACs right now that articles should be understandable to a non-expert reader without clicking on a wikilink. This article does a great job explaining some terms, but other medical and technical terms are not explained. I highlighted some examples below, but I suggest you also do a read-through to ensure all technical terms have a short definition in the article explaining what it is.

Lede

  • "varying severity, characteristic facial features" Can we briefly describe these facial features?
  • "and skeletal anomalies." What kind? Explain briefly
    Fixed both clauses -- thank you for your comments! Vaticidalprophet 00:40, 9 April 2021 (UTC)[reply]

Presentation

  • "common to all aneuploidies of the" Define aneuploidies
    I've footnoted a definition on the first mention. Vaticidalprophet 05:11, 9 April 2021 (UTC)[reply]
  • "do not necessarily "stand out from the crowd"" I don't like the use of jargon here, even if it is in quotes. Can this be replaced with something like, "are not necessarily noticeable to an average observer"?
  • I see where you're coming from, but I wonder if this would be counterproductive. The quotes is natural/colloquial language, while 'noticeable to an average observer' blends in with the polysyllabic jargon that the article is admittedly already full of. (At many people's reading level, even the simplified parts of this article are hard to understand -- and will be no matter what unless they go either patronizing or unencyclopedic.) I'm inclined to leave some easier spots. Vaticidalprophet 10:36, 9 April 2021 (UTC)[reply]
  • " Epicanthic folds" explain what this is in a bracket

History

  • "two intellectually disabled women residing in an institution." Do we know what city/institution these women were in? Who reported/discovered it?
  • I am concerned that the history section mostly relies upon 1960s-1970s info. Is there information about this post-1970? Maybe some organisations, backlash, increased recognition in different parts of the world?
    I'd concur that there's room for expansion here. On the other hand, as mentioned a couple times, there's the matter of just what reports we even have. It's not something where anyone has much bothered to sit down and chronicle a history -- anything from about 1970s-1990s would be mostly discussing the XXY/XYY/XXX core with the actual subject of the article as an afterthought (and the second paragraph discusses this problem). Patient orgs don't pop up recognizably until about the early 2000s, and would have to be discussed through primary rather than secondary sourcing (as the secondary sourcing focuses on more common sex chromosome aneuploidies). That said, I'm thinking of fusing the stub-y "Society and culture" into "History", and I may see what can be done to pad out those issues. Vaticidalprophet 06:14, 9 April 2021 (UTC)[reply]
    Posterity update: they're fused and there's a new paragraph between them. May be room for more expansion, although I'm not certain where. Vaticidalprophet 02:06, 10 April 2021 (UTC)[reply]

I hope this helps. Z1720 (talk) 17:50, 8 April 2021 (UTC)[reply]

Comments from SandyGeorgia

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Swamped, but will add some things a bit at a time. For general advice on bringing a medical article to WP:FAC, please consider all of User:SandyGeorgia/Achieving excellence through featured content, which was written for medical content, but contains a lot of general useful links at the bottom.

For journal articles that cover a large range of pages, and for which more than a general conclusion is used, page numbers or section names are expected at FAC to help with WP:V. See, for example:

which provide multiple examples of different ways to meet WP:V. For example, this is a broad page range that could possibly narrowed down:

  • Genetics and Etiology of Down Syndrome. London: IntechOpen. pp. 23–31.

Also, @Ajpolino, Colin, Graham Beards, and Spicy: who might help tune this article up to FA level. More as I have time, SandyGeorgia (Talk) 18:13, 8 April 2021 (UTC)[reply]

  • ... it has been proposed that paternal X chromosomes may frequently be lost in high-level aneuploidy.[26] ... "it has been proposed" cited to a 1979 source is problematic; where does that stand? Review that all sources reflect WP:MEDDATE. SandyGeorgia (Talk) 18:16, 8 April 2021 (UTC)[reply]
    This one troubled me a bit when I was writing it. There's definitely something of note going on there, but I couldn't find a more recent source. I'm currently sandboxing a rewrite of pentasomy X, and there's some overlapping discussion of the parental inheritance issue including in part more recent sources, so I'll experiment a bit with what to do here. Vaticidalprophet 05:16, 9 April 2021 (UTC)[reply]
Just a note to say I see the ping, am very pleased to see this here, and will have time to take a look next week. Looking forward to the read! Ajpolino (talk) 13:56, 9 April 2021 (UTC) [reply]

I see there are no recent secondary reviews and you have had to use an older one. And I see you have used everything useful that books.google coughs up, except ... Is there anything useful in these sources ?

SandyGeorgia (Talk) 20:39, 8 April 2021 (UTC)[reply]

The other two books don't seem to have much directly appropriate -- the former is a passing mention of care/support recommendations I've already taken from elsewhere, while the latter is harder to tell, but appears to be fertility counselling for women with trisomy X. Vaticidalprophet 05:25, 9 April 2021 (UTC)[reply]

Citation consistency. Some of the journal sources use sentence case and others use title case; one style should be chosen for consistency. On Wikipedia, books always use title case. I typically switch all journal articles to sentence case, as that tends to be the most common. SandyGeorgia (Talk) 20:41, 8 April 2021 (UTC)[reply]

Switched the journals to sentence case. Vaticidalprophet 00:55, 9 April 2021 (UTC)[reply]

Attention to however and also needed. Also—almost never needed and almost always redundant. See overuse of however and User:John/however. User:Tony1/How to improve your writing has good information on these plagues of Wikipedia. SandyGeorgia (Talk) 00:07, 9 April 2021 (UTC)[reply]

Cut a few, leaving for now the ones I can't figure out how to reword. Vaticidalprophet 13:49, 10 April 2021 (UTC)[reply]
Also grabbing a few other repetitions -- some of which I've unfortunately added to the article after beginning PR... Vaticidalprophet 14:07, 10 April 2021 (UTC)[reply]

Overall, the article is in good shape but the challenge will be to lessen the jargon and make the text more accessible to the layreader. Have a look at https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x for some ideas (although I would not expect the entire article to be written at that level). SandyGeorgia (Talk) 14:17, 9 April 2021 (UTC)[reply]

Sourcing concern:A very large amount of the article is source to a patient advocacy/support group, https://rarechromo.org/ ... that would not qualify as the type of high-quality source required for a Featured article. The underlying published literature should be used instead. SandyGeorgia (Talk) 14:20, 10 April 2021 (UTC)[reply]

I was wondering when this would come up. I've been very cautious with the Unique sources. They're unavoidable for rare chromosomal disorders -- for many conditions, they are the literature review. Their disorder guides are written by strong researchers in the fields (in those with nontrivial literature outside the Unique guide, the names on the literature and the names on the guide are the same) -- it's a different situation to if it were a common condition with a large body of excluded literature, but rather (with very few exceptions) if Unique is covering something that means almost no one else is, and the relevant guide is by far one of the more comprehensive and high-quality reviews of the disorder. They're a very nontraditional patient advocacy group in terms of their research backing.
All that said, in the case of this article (unlike a couple others with a far smaller literature, including some with no other reviews at all), there are other sources and I've focused on them. The Unique guide here is mostly used for supporting information, particularly from the parent/patient perspective. I'll go through the uses and think about what's what:
  1. #1 is a description of the two basic characteristics, which I can switch the source out for.
  2. #2 is explicitly attributed to a patient organization.
  3. #3 is explicitly attributed to a patient organization.
  4. #4 is about the era of most of the studies, which is quoted in the guide. It'd be SYNTH from anything else, and my understanding of WP:MEDRS#Biomedical v. general information says this wouldn't require MEDRS (I'd consider this a high-quality RS regardless for the reasons prior given) and that this is an appropriate source for such a statement.
  5. #5 is one of the tricky ones. It's a case where Unique is being the literature review (as they do routinely). In this case the Unique review was written by Rooman (cited elsewhere in the article), who has elsewhere written about genitourinary complications of tetrasomy X, but I don't know anywhere he's focused on the -urinary part.
  6. #6 is explicitly attributed to a patient organization.
  7. #7 is expanding upon another source, which gives a more unclear/ambiguous explanation of the impacts of tetrasomy X on puberty. Again, a bit of a tricky one. I'll give a re-read to one of the sources elsewhere cited in the article to see if it can be switched out here, but my recollection of the other source that might work is that it was a lot less comprehensive a review than Unique. (Both were written by the same people.)
  8. #8 is supporting another source. I think I can cut it, but I'll double-check.
  9. #9 is a fairly simple "this isn't caused by anything you did" parent-reassurance which are often oddly hard to source. The only other place I've explicitly seen that laid out is GARD...which cites Unique.
  10. #10 is supporting another source. The problem with the other source (why I can't just cut it out) is 1. it's not a literature review and 2. on account of not being a literature review, some of its conclusions fail sanity-checking. There are no non-Unique reviews for this statement.
  11. #11 is about parental involvement in adult life. I haven't found (and I've definitely looked) better sources dealing with this. (I do have some thoughts about the sourcing of that sentence generally, in the sense it could do with a second source about the "comparable syndromes" in question.)
  12. #12 is explicitly attributed to a patient organization.
  13. #13 is the same as #4.
  14. #14 is supporting another source regarding the use of the 15-points rule of thumb. It discusses it in greater depth than the source it's supporting.
  15. #15 is explicitly attributed to a patient organization.
  16. #16 is explicitly attributed to a patient organization.
Six are explicitly attributed "this is what parents/patient organizations think" statements. Two I can easily cut (and will once I've sent this). Two are issues that tends to be discussed much more in patient literature than medical literature; for a more common disorder they would have medical lit mentions, but not here. Two are claims about when certain things were written. That leaves four, three of which are used to support another source. In the context of the fact Unique is a fairly atypical patient organization serving a population that need a significant understanding of a small literature in order to effectively advocate, I'm interested to know what to do about those four uses. (Which may be cut down to three by the time you read this, per my comment on #7.) Vaticidalprophet 15:06, 10 April 2021 (UTC)[reply]
This is a good plan (but keep your lists of who's who and how they meet WP:SPS etc in case these queries come up at FAC). SandyGeorgia (Talk) 15:14, 10 April 2021 (UTC)[reply]

Femke

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Also from me not a medical review. The article is definitely a good enough stage for a pre-FAC review.

  • I think most duplicate links are defendable, but do check them: User:Evad37/duplinks-alt. Down's syndrome is commonly known, and doesn't need to be linked twice in the body. Trisomy X is linked twice in one paragraph.
    I do confess to being an overlinker. A number of the duplicates are method-to-my-madness intentional, but those were genuine slip-ups, so I've got them now. Vaticidalprophet 08:07, 9 April 2021 (UTC)[reply]
  • I agree with making the article more accessible, it's likely this article is read by family of people with the disorder. In the lead, I would explain the word karyotype briefly.
    I gave a definition and was all happy to come here saying I'd fixed the issue, then realized you said I should put it in the lead when I'd actually put it in the body. Now wondering how to avoid being unnecessarily repetitive. Vaticidalprophet 09:08, 9 April 2021 (UTC)[reply]
    Thinking more, the issue here is that 'karyotype' has a few different meanings, all used in the article at different points, and I'm not entirely sure how to square those without too many repetitive (and likely, paradoxically, confusing) definitions rather than just linking when it could be confused. Vaticidalprophet 10:37, 9 April 2021 (UTC)[reply]
    The important bit is the lede if you have to choose where to explain it. FemkeMilene (talk) 15:48, 9 April 2021 (UTC)[reply]
    After some thought about how to tackle this, I've placed a footnote in the lead explaining the multiple meanings. Vaticidalprophet 06:14, 12 April 2021 (UTC)[reply]
  • I think it's important that the reader knows this article is about humans in the first paragraph. You've convinced me that the word female has a place as a noun in this article, but the first instance could be replaced by "girl or woman".

Body

  • I find the presentation section slightly overwhelming. Is there a possibility to make two subsections?
  • Note 1 is missing a citation for the last bit
    This one's a bit tough -- it's hard to prove a negative in wikivoice, and especially such an obscure negative. Do you think it would still come across to readers if I just sliced the last sentence? Vaticidalprophet 00:42, 9 April 2021 (UTC)[reply]
    I think it's fine to just leave it out. FemkeMilene (talk) 15:48, 9 April 2021 (UTC)[reply]
  • Only around 100 known cases of tetrasomy X are diagnosed -> there are only around hundred cases of tetrasomy X known. (diagnosed feels redundant) ???
    Funny you pick at this sentence, because it's a problem for reasons totally unrelated to prose, and is one of the points already obvious to me that I need to do something about before seriously thinking about FAC. The issue is that while this number is verifiable and reliably sourced, and not having it would make for an incomplete article due to how widespread it is, there's no way in hell it's true. The online patient support groups alone are about double that (and not infrequently discuss "why are new families still being told there are only 100 cases?"). At this point, the best idea I've got is to email one of the very few people who work in this field and ask "could you put an updated count somewhere that counts as a reliable source by Wikipedia standards?". Vaticidalprophet 04:24, 9 April 2021 (UTC)[reply]
  • The early preference for diagnosis of sex chromosome aneuploidy in selected samples, such as institution residents and prisoners, originally led to a biased perspective on the conditions that painted an unduly negative portrait of their phenotypes and prognoses. Redundant?
  • unselected samples -> random / unbiased? Or discipline-specific wording?
  • approximate rule of thumb - a rule of thumb is by definition approximate.
    Fixed. Vaticidalprophet 00:42, 9 April 2021 (UTC)[reply]
  • number of supports -> I believe support is an uncountable word. Rephrase. FemkeMilene (talk) 18:33, 8 April 2021 (UTC)[reply]
    'Support/s' is countable in the context of disability accommodations, in my experience. Vaticidalprophet 00:42, 9 April 2021 (UTC)[reply]

Ajpolino

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Ok, comments from my first read-through posted below. In general, I think the article is excellent. I'd encourage you to consider folks' comments, and plan on sending it to WP:FAC as you mentioned above – not because the bronze star will magically increase your value as a person, but because I think it's a nice experience to get that kind of broad feedback on something you wrote for a somewhat-general audience. I don't see the lack of photograph as a fatal impediment, especially as it sounds like a photograph wouldn't distinguish someone with the disorder from someone without. Anyway, I'm still planning to skim some of the sources and give more thoughts on the well-researched and comprehensiveness criteria. Perhaps this weekend. Also a reminder that I am neither a geneticist nor an expert writer; all comments are intended as friendly suggestions that you can take or leave. Ignoring or disagreeing with my comments will certainly not offend me. With that, here we go:

Prose

  • Lead:
    • I'd suggest leaving "phenotype" out of the lead if possible, since I think it's not widely understood by layfolk, and I think both the uses in the lead are easily replaced:
    ... wide range of symptoms, with phenotypes ranging from slight to severe to "...wide range of symptoms, ranging from..." or "The effects of the disorder range widely, from slight to severe.", or something like that.
    phenotypic overlap to "appears similarly" or "can appear similarly to" or something.
    Been thinking about this, not trying to leave you hanging. I see where you're coming from and may try to reword it. I tend to think of 'phenotype' as an easier bit of jargon, but this is likely just me being in way too deep. Vaticidalprophet 21:32, 24 April 2021 (UTC)[reply]
    • Note 1 - I'm concerned folks will misunderstand "chromosome complement" to be some kind of jargon. Perhaps "complement of chromosomes" makes the meaning more clear? Maybe that's only different to my ear though.
  • Presentation:
    • has a variable presentation with a spectrum of severity to "varies in severity"
    • clinical abnormalities to "abnormalities"
      • Mm, maybe. I'm inclined to have 'clinical' as a softening term of "we're using this to mean it's medically defined as an abnormality, not that it makes someone with it abnormal in the colloquial sense". Vaticidalprophet 07:21, 17 April 2021 (UTC)[reply]
    • defining clinical abnormalities that can lead to a definitive - this may be a me-problem, but my ear grates at "defining... definitive". Also it's somewhat redundant. Perhaps just "and lacks obvious defining abnormalities that can lead to diagnosis in the absence of testing."?
    • the average adult height... for women in the Anglosphere was momentarily confusing to read since I initially interpreted "average adult height" to mean the average for all women. Perhaps instead "The average height of an adult with tetrasomy X is 169 cm (XX ft/in), compared with an average 162 cm (XX ft/in) for Anglosphere women."?
    • Although some degree of intellectual disability is traditionally characteristic - you can probably remove this clause since you've just told us as much in the two sentences prior.
    • Speech and language delays may be associated with tetrasomy X, although the matter is unclear - this sentence can probably be removed? The meaning is communicated just fine with the subsequent sentence.
    • subjects is a bit uncomfortable to read. Perhaps "in particular for people who have..." is better?
    • One area of particular interest... - can this be rephrased some way? If the sources call it an area of particular interest, then perhaps they should be quoted. If not, perhaps the sentence could just start with "Autoimmune disorders..."
    • ...and cases with severe behavioural dysfunction - "cases" reads fine when you're describing case reports, but here the rest of the sentence is describing people, so perhaps "people with severe..." would read more smoothly.
  • Cause - I'm not sure I understand the sentence More recently... incompatible with life. Perhaps it could be rephrased (or even removed)?
  • Diagnosis:
    • Due to significant differential diagnosis potential... I'm not sure a layperson would understand what you're getting at with that clause. Is there an easy rephrase?
    • Tetrasomy X has many... overlapping with the phenotype is somewhat redundant to the sentence before. Perhaps you could replace both sentences with something more layperson friendly? "Tetrasomy X can appear similarly to other genetic conditions..." or something like that?
    • A three-sentence chunk The clinical portrait is made... mosaicism has been reported could stand to be clarified. In my head I often use the "would my brother (a reasonably bright guy who teaches music to tweens for a living) understand this?" standard. Here I think the answer would be no. Happy to help brainstorm alternative wordings if you'd like.

Comprehensive and well-researched

  • Presentation:
    • Most medical reports... congenital heart defects - is this connection suggested by a source, or is this your observation?
    • The psychological and behavioural phenotype of tetrasomy X is understudied. - do sources call it understudied, or is this your assessment of the situation?
    • and a case is known of a girl with tetrasomy X and childhood-onset schizophrenia. - I haven't read the review cited just before this clause, but does this single case report merit mention?
      • IMO, yes. The schizotypal-spectrum characteristics of X chromosome polysomy are a known quantity (something that's come up in other articles), and I've read reviews predating this case report that say "we should expect that to be more common in tetra X too, but we don't actually have any cases of it yet to be sure about". Vaticidalprophet 07:17, 17 April 2021 (UTC)[reply]
    • I'm searching around for other sources to check that the article is comprehensive and faithfully represents current understanding, and I cannot believe how little folks have written about this. I'm looking for mention in human genetic disorders textbooks now (not my field, anyone know of a trustworthy book?). I'll post whatever I can find, and if you'd like copies just let me know and I'll send them along.
      • Smith's Recognizable Patterns of Human Malformation, 7th ed (2013) has a chapter on chromosomal abnormalities with a brief blurb on XXXX. I think you've already covered everything in it.
      • A chapter of Nelson Textbook of Pediatrics (2020) gives a paragraph on XXXX and XXXXX, giving a slightly harsher picture of what these karyotypes are like (though it's just a paragraph...).
      • Still looking Ajpolino (talk) 20:56, 24 April 2021 (UTC)[reply]
        • I cannot believe how little folks have written about this -- yeah, chromosomal disorders are absolutely not the easiest field to source. Or from another point of view, they're easy to write comprehensively about because the scope of what's comprehensive is so small. My email's open for the chapter/paragraph if you're interested in sending it; as Unique notes, the phenotypes of these conditions (re. 'slightly harsher') are so subjectively interpreted because of the combination of rarity, few reports, and suspected underdiagnosis. (I delved into that quite a bit with XYYY syndrome, which just passed GA and is for something where the body of literature makes tetrasomy X look hyper-covered.) Vaticidalprophet 21:24, 24 April 2021 (UTC)[reply]
          • Jeepers. Found one more -- Psychopathology of Childhood and Adolescence (2013) has a few paragraphs on XXXX and XXXXX -- lots of other clinical books seem to give it a sentence or less at the end of a Trisomy X discussion (basically to the effect of "and all these things get worse with more X chromosomes..."). I think that's all I could turn up. I quite enjoyed the Unique review, and agree that underdiagnosis probably skews many of these brief textbook descriptions unduly harsh. Will send along what little I could find, just in case you find a useful nugget in there. Re: makes tetrasomy X look hyper-covered, yikes. I'm afraid to even look. Ajpolino (talk) 21:37, 24 April 2021 (UTC)[reply]
            • I'm afraid to even look -- you'll be terrified to know this is, comparatively, maybe the most extensive scope of the ones I've written so far! Frankly, I'm scared of starting trisomy X, because I have no idea yet how to write about something with an actual body of literature... Taking a look at those, the 2013 one is actually in the article, supporting the 1/50,000 prevalence estimate. (I personally think that the most plausible by far of all the numbers floating around, and might rewrite the section a bit at some point to focus more on it, considering the prior mentioned issue with the '100' claim.) The 2020 one is, as you note, a bit sparse and seems already covered. I'm leaning towards 'already covered' for the last of the three -- it does provide a different IQ estimate to the (very early) review given, but considering it's lower rather than higher that implies leaning into underestimation. Vaticidalprophet 22:16, 24 April 2021 (UTC)[reply]

Hi Vaticidalprophet, it has been over a month since the last comment. Can we close this PR? Z1720 (talk) 20:23, 6 June 2021 (UTC)[reply]

Feel free! I have what I need from here, and I know how to move forward. Vaticidalprophet 20:28, 6 June 2021 (UTC)[reply]
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