Talk:2011 Group Project 3

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Group 3: User:z3289066 | User:z3289301 | User:z3289829 | User:z3289991


--Mark Hill 07:35, 30 September 2011 (EST) Currently all students originally assigned to each group are listed as equal authors/contributors to their project. If you have not contributed the content you had originally agreed to, nor participated in the group work process, then you should contact the course coordinator immediately and either discuss your contribution or request removal from the group author list. Remember that all student online contributions are recorded by date, time and the actual contributed content. A similar email reminder will be sent to all current students.

Please note the Universities Policy regarding Plagiarism

In particular this example:

"Claiming credit for a proportion of work contributed to a group assessment item that is greater than that actually contributed;"

Academic Misconduct carries penalties. If a student is found guilty of academic misconduct, the penalties include warnings, remedial educative action, being failed in an assignment or excluded from the University for two years.

2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip


Hey i have been looking for a profile pic for some time and none have come up. So prob better if you don't look for it because I am afraid that you will waste time. Nice! birthday cake :) I should do that for my dad's bday which is coming up. Anyways see you tomorrow --Dona Cho 23:55, 21 September 2011 (EST)

Hey Dona, thats a good idea! i like all the pics that you have added, and pathogenesis looks good! I just baked my dad a birthday cake and planning on doing some work on this now. So i will probably be up for a while. I am also looking for pics of H. Klinefelter. Good work!--Souti Khalil 21:12, 21 September 2011 (EST)

I am looking for a profile picture of Mr Klinefelter. I think it will be good to put one in in the introduction section. I am having trouble finding any - but you do come across one pls put one up -I think it will look great! --Dona Cho 20:19, 21 September 2011 (EST)

Guys I thought that it would look good if all the images were order 'figure 1, figure2...' Just so that it all looks uniform Hope your ok with it but if you don't like it you can just change it back.

--Dona Cho 17:52, 21 September 2011 (EST) :)

That looks interesting, but I'm not really up to adding any of that tonight. Feel free to add whatever you like. --Elisabeth Karsten 22:57, 14 September 2011 (EST)

Hi guys ;)

I was just reading some stuff - found some interesting info related to management (I think it is liz?)

The part of the review is as follows:

'Decreased energy and libido, which are associated with postpubertal testosterone deficit, improve with hormone therapy and often are accompanied by improved confidence and sense of well-being.Androgen therapy should be started when there is direct laboratory evidence of a testosterone deficit or when hypergonadotrophism, which suggests such a deficit, is present. This may occur by the time the patient begins middle school...

Because gynecomastia predisposes men to breast cancer—the frequency of breast cancer is 20 to 50 times greater than in men who do not have Klinefelter syndrome1,2—monthly breast self-examination should be encouraged. If necessary for cosmetic reasons, gynecomastia may be treated surgically.'

The review also mentioned something about 'cryopreservation' so that the precious sperm can be stored and used for later IVF.

If the above sound interesting, it might be good reading the review article (particularly the management section. Follow the link below for the review.

ps. I dont think I will be sleeping much tonight!!

--Dona Cho 22:32, 14 September 2011 (EST)

I don't think we can use those pictures, unfortunately. Safest to stick with papers and hand-drawn I think. The timeline looks really really good. If anything, I would be inclined to put a bit less info in the main bit of history and focus on that time line. I think it's a nice visual respresentation of the information. --Elisabeth Karsten 21:17, 14 September 2011 (EST)

I found this website which has alot of picture's of KS, and there are only a few copyright statements, can we use them? [1]

Haha, I just saw them! thanks for that! I just edited the history and the timeline. Is the information in the timeline just repetitive of what i have written, should i just remove it? --Souti Khalil 20:09, 14 September 2011 (EST)

It did end up happy in the end lol. Yeh they look really good. We're allowed to add links to our page, so I think that'd be best. I'll put those on now. Thanks! --Elisabeth Karsten 18:46, 14 September 2011 (EST)

Thanks for fixing up the table in signs and symptoms, it looks great!

That video was mean, i was eating when i watched it and i felt so sorry for the little boy, i couldnt watch the rest. :(

If you think we need an animation i found these two websites, but i have no idea of how we would put them on to our page.

[[2]] [[3]] --Souti Khalil 18:09, 14 September 2011 (EST)

That video is so funny! I was laughing to the point of tears while watching this! I don't think Dr. Hill would be too happy if we added the video to our webpage though. Great job Liz once again with the editing. Keep up the good work!--Robert Klein 15:22, 14 September 2011 (EST)

Hey everyone, I just uploaded our 1 Wikipedia image. It's the karyotype of Klinefelter's syndrome. If anyone founds anything better on Wiki, just make sure you say something and take that one off. --Elisabeth Karsten 09:52, 14 September 2011 (EST)

So I found this video, it's super cute and lame. But I think it's a nice representation? Not sure how applicable it is though... --Elisabeth Karsten 10:08, 14 September 2011 (EST)

Signs and Symptoms by Age Group.PNG

Thanks Liz! I really loved the intro and the picture that you created! Maybe we don’t have to remove it, however I will also be on the lookout for a picture which may better suit the introduction. In the meantime, I was thinking maybe we should order the subsections better, for example; Introduction, History, Epidemiology, Aetiology, Pathogenesis, Signs and symptoms, diagnosis, management, other similar defects and then current research. I just think we should explain the cause and pathogenesis of the disease before the signs and symptoms and diagnosis.

Lastly, I found a table on a website and have created a similar one on signs and symptoms. I'll just upload it here, and we can decide if we want to use it.

That is all. --Souti Khalil 13:13, 12 September 2011 (EST)

That table looks really really good, though it could be easier if we upload it like the other table I put up, as opposed to a picture. I'm happy to do that if you like. And yeh that order looks good too, I'll change it now and if anyone disagrees they can change it back. --Elisabeth Karsten 22:29, 12 September 2011 (EST)

Our page is starting to looking really good!! I just fixed up the aetiology, it may need more work to be done though. Liz the picture i made, is really similar to the one you have in the introduction, is it too much?? Sorry about the delay in uploading it. --Souti Khalil 00:50, 12 September 2011 (EST)

That's fine, I kind of expected that. You use it since it fits in with your topic and I'll do another one for the intro. Aetiology looks really good, nice work!

--Elisabeth Karsten 09:07, 12 September 2011 (EST)

Hey Liz, Great job with the editing! It looks really good. I will keep on the lookout for gathering more information. --Robert Klein 20:31, 11 September 2011 (EST)

Hey everyone, I've just fiddled with the formatting of the page a bit. If you don't like it, of course feel free to change. I also changed the formatting of the table t make it a bit clearer to read, if you preferred the old one though I've saved a copy of it so just let me know. Just looking at the page, some things in epidemiology I think would fit a bit better in signs and symptoms; and eitiology and pathogenesis are a little repetive of each other which I guess we should of expected. But we'll be able to discuss it properly on this coming thursday.

--Elisabeth Karsten 20:24, 11 September 2011 (EST)

To help out a bit, I found some links to articles that are 'Open Access'. This should save time for you guys:

Hope this helps!--Robert Klein 12:23, 9 September 2011 (EST)

Looks good, thanks rob.

--Elisabeth Karsten 20:24, 11 September 2011 (EST)

I had to remove the photo from 'signs and symptoms so that I can confirm it's copyright restrictions. Sorry about that. --Robert Klein 07:44, 9 September 2011 (EST)

I edited the Epidemiology and fixed it up as best I could. As well, I found and added a picture to the signs and symptoms section to make it a little clearer. I still seem to be having difficulties with formatting. If anyone comes across charts that I can use for Epidemiology, that would be much appreciated. I still can't find anything that I can use. I will fix up the 'other similar defects' section and have it ready very soon. --Robert Klein 06:39, 9 September 2011 (EST)

Hey guys, sorry I've been a bit MIA recently. But yeh I agree totally, I was planning to finish off the intro once everything else is finished, but for the moment I'll make sure I'll finish off my other sections. And yeh you're ideas re:tables and diagrams sounds great. I'll have a go at drawing a couple on paint as well --Elisabeth Karsten 21:39, 8 September 2011 (EST)

Good idea Souti! As well as that, I will retype my sections and try and fix them according to what Dr.Hill wishes. Maybe for treatments, you could speak about the drugs used to manage the condition. We do need to edit the other sections and add much more content and diagrams. Perhaps a few handrawn diagrams wouldn't go astray?--Robert Klein 18:40, 8 September 2011 (EST)

Hey guys, I noticed earlier today that Mark Hill has put comments on our page that we need to change and improve. So i'm going to take out 'case study', and replace it with 'treatments'. What do you guys think? Make sure you have a look at what he has said. --Souti Khalil 17:44, 8 September 2011 (EST)

Rob, 'Other Similar Defects' is looking great! I am committing the next couple of hours to Klinefelter's syndrome. Do you guys think we could elaborate a bit more in the introduction, just to give a larger scope of our disease?

--Souti Khalil 11:48, 8 September 2011 (EST)

I added images to 'Other Similar Defects'--Robert Klein 07:55, 7 September 2011 (EST)

I have constructed a table for Other similar defects! I think that it should be alright, however there may not be enough info so the conditions may not properly be explained. We are still waiting on a table for signs and symptoms as well as a diagram for pathogenesis--Robert Klein 10:01, 6 September 2011 (EST)

What we should do is add a table to 'similar defects', a diagram for pathogenesis, a and a table for signs and symptoms--Robert Klein 12:49, 1 September 2011 (EST)

Glossary, Epidemiology and Similar defects have all been added. Let me know if anything else needs to be done!--Robert Klein 06:04, 1 September 2011 (EST)

Alright Everyone, For the different genotypes dotpoint, I will cover that when I complete the section to do with 'similar defects'. I have fixed up the referencing system. --Robert Klein 13:53, 27 August 2011 (EST)

Hey guys, I have included a list of things that Mark Hill emphasised in regards to our group project in the lab today;

- Different genotypes

- Animal models

- Review articles

- Importance of how the disease comes about (pathogenesis).

So, by next Thursday our main page should have plenty of content under each subheading.  --Souti Khalil 14:14, 25 August 2011 (EST)

Hey Guys, I have added a discussion tab for any enquires and updates on the progress of our assessment, as well as a referencing tab (or whatever they are actually called) at the bottom of the page. So for each section, if anyone finds relevant articles/images etc. they can place it there. Oh, and please remember to add new content to the top. --Souti Khalil 00:53, 18 August 2011 (EST)

Hey Guys, Sorry to be a bother. I am having trouble referemcing properly in the Wiki format, as what can be seen in my Epidemiology piece and also my messing up of the reference list. Would one of you mind showing me how to fix this problem? Thanks so much and I will have the piece on 'other similar defects' prepared by Saturday. The glossary will be uploaded on Monday. --Robert Klein 05:40, 18 August 2011 (EST)

Referencing PMID is the reference number that you need

without the ':' will act as an link to the article --Dona Cho 12:51, 25 August 2011 (EST)


If you find any good papers relating to someone elses topic, you can put them under these subheadings to help out.

Hey guys! this is a publication which seem to be pretty good!! --Dona Cho 12:54, 25 August 2011 (EST)



Natural history of seminiferous tubule degeneration in Klinefelter syndrome[1]

Signs and Symptoms


Abramsky L, Chapple J.47, XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn. 1997;17:363–368.

Bojesen A, Juul S, Gravholt CH.Prenatal and postnatal prevalence of Klinefelter syndrome: anational registry study. J Clin Endocrinol Metab. 2003;88:622–626

Klinefelter Syndrome


Hey guys, it's Dona. I put my name down for this section. I will try to get mine done by the end of this week. :)

--Dona Cho 17:23, 24 August 2011 (EST)




Case Study

Similar Defects

Current Research Check this out!!--Robert Klein 05:03, 1 September 2011 (EST)



  1. <pubmed>16172111</pubmed>
  2. <pubmed>21342258</pubmed>


Magnetic Resonance of Head MRI from patient with Down Syndrome and Klinefelter's Syndrome

--Souti Khalil 23:57, 17 August 2011 (EST)

Klinefelter's Syndrome

--Elisabeth Karsten 23:31, 13 August 2011 (EST)

Klinefelter's Syndrome patient testicular sample

--Robert Klein 10:17, 16 August 2011 (EST)

Facial dysmorphic features in a child with double aneuploidy—Down syndrome and Klinefelter syndrome

--Dona Cho 20:35, 17 August 2011 (EST)

Topic Choice

Hey guys, so after having a look at that list I quite like the sound of

  • Anencephaly or
  • Klinefelter's syndrome

There's loads of resources for Klinefelter's syndrome, but I think Anencephaly sounds really interesting. It's a type of neural tube defect, so we may even be able to do that as a topic - neural tube defects (it's on the list as well). Just let us know what you think, thanks guys!

I've just attached a review for each

Klinefelter Syndrome

Neural Tube Defects or Anencephaly

--z3289066 09:32, 6 August 2011 (EST)

Hey Everyone, I am leaning towards Klinefelter syndrome as it seemed interesting to learn about. I found a couple of articles on the internet which explore more the epidemiology of the condition amongst the population. Liz, I read through your artiles and they were quite interesting in the way that they explored the genetics behind the condition. We will be able to perhaps link these in with the epidemiology to make our argument more convincing.

Below is a review article:


The Research Article:


Both articles explore more the epidemiology of klinefelter's syndrome as I felt that it would be interesting to look at its prevalence, and frequency of distribution within a population. The first review article that I hasve linked to explores the frequency of Klinefelter's syndrome in a population along with various other genetic anomalies.

--z3289991 07:02, 9 August 2011 (EST)

Yeh that sounds good to me, if anyone has any objections just let us know. We can figure out exactly what we want in the page on thursday, but yeh should def's talk about the epidemiology.

--z3289066 14:53, 9 August 2011 (EST)

Hey guys!

I think that Klinefelter's syndrome is definitely an interesting disease and it has lots of resources. I think we still need a plan B though, a few other diseases which I thought were really interesting are; - Thalassaemia - Anencephaly (good pick Liz!) - Spina Bifida I found a really good review article on Klinefelter’s syndrome, although it’s pretty dated. [6] [7]

I shall see you all thursday!

--z3289829 22:15, 9 August 2011 (EST)

Hey guys, this is dona - I guess I am the last one to write on the board (sorry!)

I personally like the topic; neural tube defects. Reasons are 1. there is so much information because it is an umbrella term that includes many conditions like spina bifida and anencephaly and 2. we will be learning the developing of the neural tube next week in lecture - so it will not be difficult to understand the etiology of neural tube defects

Here are the links:

review article [8]

research article [9]

p.s Hey could everyone identify themself by writing their name before writing on this discussion forum, that way people know whose talking. (please)

--Z3289301 17:23, 10 August 2011 (EST)


  • Description/Introduction - Liz
  • History - Souti
  • Signs and Symptoms - Dona
  • Epidemiology - Rob
  • Treatment - Liz
  • Eitology - Souti
  • Pathogenesis - Dona
  • Similar defects - Rob

I was thinking it'd be good to also do a topic on recent research, I'm happy to do that one, and should also do a glossary. So we should have someone finalise that, but it'd be really helpful if everyone could just add words in they think would be good as you go. Does anyone want to volunteer for editing that? Just put your name in the spot below so everyone knows.

  • Recent research - Liz
  • Glossary - Rob
  • Diagnosis - Dona
  • Case Study - Souti

--Elisabeth Karsten 12:15, 13 August 2011 (EST)

Hey Guys, I have uploaded an image to the Epidemiology section of the Group webpage, however it appears to have distorted the whole webpage in that all the other categories below epidemiology have been pushed to the side. Also, I am having trouble trying to enlarge the image. Do you know how I can fix this problem? The table was referenced appropriately. Cheers

--z3289991 10:14, 13 August 2011 (EST)

Hey, yeh that should be fine for the moment, don't worry too much about the formatting. You can fix it, but it'll be easier to do once there's text there too move around it. There should be a page explaining all the details about picture formatting, but I can't qutie remember how to do it off the top of my head. Is that the size of the original image? Because that could be part of the problem.

--Elisabeth Karsten 12:09, 13 August 2011 (EST)

Oh I've just realised what's happened, see how you've put the file name then "thumb"? The default for thumb is to make it slightly smaller and move to the right where it will wrap around whatever text is there. You can try [File name|thumb|left|name] if you want it on the left, or else instead of 'left' you can say 'center'. But it's gotta be 'center', not 'centre' (I think). Or else you don't have to use thumb at all, and just leave it out completely.

Hope this helps.

--Elisabeth Karsten 14:02, 13 August 2011 (EST)

Thanks Liz, You know what? I will add some text during next week and then play around with the formatting. You are right in your first comment, because that way I can format the picture and text properly. Thanks so much for your help though. --Robert Klein 15:21, 13 August 2011 (EST)

Peer Assessments

  • Great amount of depth, you have covered each subheading quite well
  • It was great to see a comparison to other similar defects
  • Non-disjunction is discussed twice, can it be summarised into just the one section?
  • In the signs and symptoms section, the images seem to be arranged in a disorderly fashion, maybe place them elsewhere. Also your image comparing age and intellect is extremely small. The sizing of a larger majority of your photos needs to b adjusted
  • You’re referencing needs to be tidied up; there are multiple entries from the same source that tends to clutter your reference section.
  • There were only two examples of management strategies, are there anymore out there? Maybe you could do a comparisons table for this section

--z3332629 15:23, 22 September 2011 (EST)