Talk:2011 Group Project 2

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Group 2: User:z3279511 | User:z3288196 | User:z3288729 | User:z3288827


--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

The final Pimp

Hi guys, how is your week end? Thursday is the due date for our side and I think it's looking great already. I just read through it all and noticed the following.

1) I changed 1/4000 to 1/2000 to 1/4000 in the introduction (hope that's ok) this way we are all saying the same.

2) I think we should still change what Mark Hill suggested for the "Historical Background" section: date first and picture not within the text. I'm happy to do it, just thought I should check with you Sarah...

3) There are still some references that need to be fixed

4) Do you guys want to add some of the scientific words that you used to the glossary, otherwise that would be incomplete

and 5) Mark Hill wanted to help me with the tetrallogy of fallot picture but I think he forgot, so I'll ask him again after the lecture and than it's going to be a fancy scenic view picture.

So, let's do the final pimp: I wouldn't leave it until Wednesday because the system is probably going to crash on that day;) Let me know if you need any help and let us know if you think something els should be changed/edited as well.--Anna Marx 16:40, 18 September 2011 (EST)

Hi Anna, yup, 1) sounds fine; we still have that issue with the ultrasound image and removing the text from the background don't we? I'll have a trawl through the references later and see what I can do, and for most of the scientific words I know the sections that I've done have their wording in there; everyone else just has to go through it a bit?

btw guys it looks fantastic :D --Leonard Tiong 10:51, 20 September 2011 (EST)

hey i changed up the history and put the tables in different colours so they dont look like they ar all the same thing if you know what i mean?? anyway... hope its ok :) --Sarah Jenkins 13:20, 21 September 2011 (EST)

Cool, looks good. I like the colours :) --Anna Marx 11:47, 22 September 2011 (EST)


Hi Sarah, I have a question, do you think we can split the baby pictures that you used in you introduction. Sounds super lazy of me, I know. But my problem is, that I would like to put one in my section about facial abnormalities and I couldn't find one that shows these abnormalities well and that has copyright. I wanted to use the one that is in the epidemiology section but I think Leonard wants to keep it there??? Don't really know. Any way, if we would split yours, you could get one baby and I would use the other one. What do you think? --Anna Marx 22:01, 10 September 2011 (EST)

Hey Anna, I wouldnt have a problem doing that but it is one image within the journal and im not sure if we are allowed to manipulate the images? I will talk to Mark about it and if it is ok then i will cut it up for you and put one of them in your section :) Hope this helps. --Sarah Jenkins 08:54, 11 September 2011 (EST)

Hi anna, I SAID down there that you could use the image! :D Feel free to take it because I also think it would assist in that section. I'm just squabbling over the image filename with Mark because it's not descriptive. There's another one there that has a picture of another fellow whose facial abnormalities are quite apparent so I was thinking to use them as they've got a pretty strong contrast between the two of them. What do you think? I've also uploaded my drawings, they took ages and they look so crap :( But I've been scrolling through some of the other groups and we're in good shape guys! It looks really great :) I'll sort out my glossary terms tomorrow morning. Excellent work over the break guys. --Leonard Tiong 21:42, 11 September 2011 (EST)


Hey, how are you holidays coming along? I just wanted to let you know four things;):

1. I am "done" with clinical manifestations. So you can have a look if you like it... I'll still upload at least three images of which two are drawings.

2. So we have got the drawings covered. I just have to scan them.

3. I'll still work on the treatment section tomorrow.

4. For the matching up of our individual sections, Sarah would you mind to change the typical symptoms in your introduction to the same ones I talked about in detail. I think it would look good. Anyway...It would be the following ones:

  • Congenital heart defects
  • Defects of the palate/velopharyngeal insufficiency
  • Recurrent infections due to immunodeficiency
  • Hypocalcaemia due to hypoparathyrodism
  • Learning difficulties
  • Abnormal facial features

Have a good brake guys, --Anna Marx 2--Leonard Tiong 10:45, 8 September 2011 (EST)0:22, 3 September 2011 (EST)

Hi, so I have done my treatment section as well including references and glossary. --Anna Marx 21:43, 6 September 2011 (EST)

Thanks Anna :) I will change it all up now. I know you are doing the drawings but the rest of us need to get some pictures up if possible? --Sarah Jenkins 08:55, 7 September 2011 (EST)

Hey guys, i have a few pictures to load up, so will get onto that..

Was also going to ask if anyone came across anything good under the future research heading? I have found a bit, struggling a little though, and i feel like there should be more.. Just wondering if anyone came across any interesting points/areas when doing your own research.. Also had the suggestion that maybe pathogenesis/etiology could fall under the same heading, as they are both very similar topics, and maybe I/we could write something up more focussing on the pathophysiology as another heading... I know Anna does talk about this a bit in her clinical manifestations, but thought there was room to potentially cover pathophysiology in a bit more detail under anther heading, and we could maybe reduce the detail in her table as a result, make it a little less large.. let me know what you think..

--Timothy Ellwood 09:21, 7 September 2011 (EST)

really good job with everything at the moment it looks really fantastic. tomorrow is my allocated day to get through this work, so I'll be sure to get a large chunk of my sections "done". Anna, excellent work done so far, it looks really fantastic. Umm tim, as for your struggles at the moment, I'll be sure to keep that in mind when I'm looking at my other papers; just having a look at the moment and I'll get a little more help for you tomorrow, if possible. looking great so far guys! --Leonard Tiong 14:23, 7 September 2011 (EST)

hey tim, another idea is to change the heading to 'current and future research' that way you can look into what is being down now and very recently. that will give you heaps :) --Sarah Jenkins 07:13, 8 September 2011 (EST)

ps. i used a wikipedia image so we cant put another one up now... hope this isnt a problem --Sarah Jenkins 07:14, 8 September 2011 (EST)

By the way Anna, I'll probably draw my image and upload it later this evening; I can't find any images that best match what I want without having to go through all of the copyright information, so I'll just draw it :D slowly trawling through my sections. Epidemiology might be a bit short (as there's not that much you can write on it) but the pathophysiology section should be quite lengthy (Hopefully :) ) --Leonard Tiong 10:45, 8 September 2011 (EST)

Slowly going through pathophysl now. by the way guys, Mark Hill has put something at the top of our page if you haven't already seen it. I think it would be best to implement the points that he has noted; they're relatively minor, if you guys haven't gotten round to doing it by say, tomorrow (?) then i'll see if I can change it :)

I'm finding this INCREDIBLY FRUSTRATING that I can't save the material but no one else seems to be online. :(

Hello! I just thought let you know that I did two drawings which I plan to put into the table under clinical manifestations. And I also have images on my computer, that also go into the table. I just have trouble uploading them (may be it's because I have a mac... not sure). But in case I don't manage I'm sure one of you could help me on Thursday. I'll also try to make the tables a bid lighter. --Anna Marx 17:15, 8 September 2011 (EST)

ALL RIGHT, so I have change my tables. I have tried to explain it in a way so that people with no science background should understand it. Some words I had to leave in because that is just what it's called... Any way I think it'll be even better once I have the pictures in as well. If you like to have some thing changed let me know. --Anna Marx 19:12, 8 September 2011 (EST)

Hi Anna, just asking what have you done in your drawings? I drew the chromosome and the area in which deletions were most common, it's not the greatest drawing but I leave it up; and, I was thinking of drawing the presenting symptoms of DiGeorge (there aren't that many anyway). What do you think? Let me know what you've gotten down :) --Leonard Tiong 23:06, 8 September 2011 (EST)

Hey guys I will fix up what is wrong with my bits tomorrow afternoon sorry. I have had other things to do this week as well. Mark's comments are valid and relatively simple to fix luckily. --Sarah Jenkins 00:55, 9 September 2011 (EST)

Hey guys. Looks like Dr Hill's criticism was relatively minor which is great. Should be easy for us to fix. As for the future research I have found a heap more stuff, seems as if alot of current research on this deletion is in relation to schizophrenia, but have found alot more stuff relating to Digeorge. Suggestions still welcome of course. Sarah your suggestion is fanatastic, more relevant as well. I will change that now. As for my last section and images I will get to that tonight hopefully, just have been working full time over the break.. --Timothy Ellwood 10:24, 9 September 2011 (EST)

Hi, I have changed my table even more - hope you like it. In the end we might have to match the colours but we cna do that together in the lab. How is doing epidemiology, I planned on using exact the picture for clinical section where I describe facial abnormalities. That was the best one I found - that other children looked so said. Any way, may be I can steal it or I try to find another one. Tim, I also thought I suggest, if you still can's find enough you could look into more specific stuff. For example into research of how to improve cardiac surgery, treatment for immunodeficiency etc... there should be loads out there. Any way, we are doing great team! --Anna Marx 16:40, 9 September 2011 (EST)

Hey guys,

Yeah, just have to put in a couple of images to help break things up. I've been looking at the things that the other groups have produced from the previous years and it looks really great, I think our project is beginning to look somewhat like that (which I feel will do us good!). I'm still trawling through some of the references and images; as for the epidemiology section, I've written all that I can find on that... if you guys want to put anything else in there feel free too but I feel there's a lot of repetition throughout the literature and what I've written covers epidemiology quite well. Having looked at some of the other groups we've done a really great job, anna, feel free to upload those pictures so that we can all have a look :)--Leonard Tiong 22:09, 9 September 2011 (EST)

Hi yeah, I will on Monday. I am sorry that I can't do it earlier! --Anna Marx 21:42, 10 September 2011 (EST)

week 6

hey awseome work with the page but u have to put references on your work asap or we will get done for plagiarism --Sarah Jenkins 07:18, 23 August 2011 (EST)

Yep, I'm working on it now. Is tim still working on the project with us? He hasn't written anything for his sections yet.. --Leonard Tiong 08:50, 1 September 2011 (EST)

Hey guys. Yeh im working on my sections, havnt posted anything up at all coz have been sick for the last week or so, and then working all weekend. I plan to have the majority of mine done by tonight though, then will start the editing process overall later in the week i guess. Sorry to hold things up. --Timothy Ellwood 08:57, 5 September 2011 (EST)


Hey sorry I missed the lab class today, im having some family troubles but will be back in sydney on the weekend. If somebody could let me know what happened etc I would really appreciate it. Are we still doing Duchennes or did another group choose it too?

Hello, I hope that you family gets better soon. So, we had to flip a coin with another group about Duchennes and unfortunately lost. We decided that we'll all think about what else we would find interesting until Sunday and post our suggestions here so that we can make a decision about it on Sunday or early this week. If I understand right, it would be the best if we find a disorder that is really caused during embryonic development. Hence Duchennes and Thalassamia for example are not the best ones any way. Have a good week end guys. --Anna Marx 18:51, 11 August 2011 (EST)

Thanks Anna, I will have a look at some now and see what I can find :) --Sarah Jenkins 15:20, 12 August 2011 (EST)

New Ideas

  • Conjoined twins. It results from abnormalities in the original process of cell division.

  • Spina Bifida is due to incomplete closing of the neural tube

  • Cri Du chat syndrome

  • Ectodermal dysplasia

Another Idea

Hi! I think there are so many interesting congenital diseases/abnormalities which we could choose. I have had a look around and I think that DiGeorge Syndrome would be a good topic! First, it is due to some abnormalities in the chromosome 22, hence there is a genetic component. Second, it occurs in 1 of 4000 people and there are lots of variations from person to person, hence there will be a lot of research and a lot of information that we can use. Third, a defect in the migration of neural crest cells is included, which means it happens during embryonic development. So, may be you can have a look into it and let me know what you think. Have a good week end, Anna --Anna Marx 15:03, 13 August 2011 (EST)

I had a quick look and this looks like a good one. I'm happy to do DiGeorge if everyone else is?? --Sarah Jenkins 10:40, 14 August 2011 (EST)

Ok, sounds good! What about the rest of the group? Do you guys like DiGeorge too? I am open for any other suggestion, however I would suggest, that we make our decision soon, so that we can start our research about it. So I'll open a little "Agree with you signature" box and wait what happens :) --Anna Marx 17:41, 14 August 2011 (EST)

DiGeorge Syndrome

If you like to make DiGeorge Syndrome to our team project, sign below.

--Anna Marx 17:43, 14 August 2011 (EST) --Sarah Jenkins 19:09, 15 August 2011 (EST) --Timothy Ellwood 09:30, 16 August 2011 (EST) --Leonard Tiong 00:21, 17 August 2011 (EST)

Project Plan

I think it is important to keep moving on with the project. We need to quickly agree on things and get the job done. From previous experience, getting the work done early is a benefit to everyone involved. The project needs to be broken down into subheadings. I have listed some below which need to be covered without doubt, and I am open to other ideas as well. If everyone could pick 2 that they are happy to take on it means that everyone will have a round about even job. I spoke to Anna Earlier and she said she was willing to do the drawings. Is that still ok? If so I think its fair that you only have to do one subheading of theory work.

  • Introduction (Sarah)
  • Historical background of the disease and its research (Sarah)
  • Epidemiology (Leonard)
  • Etiology (Tim)
  • Pathogenesis (Leonard)
  • Clinical manifestations (and explanations of these) (Anna)
  • Treatment options if available (Anna)
  • Diagnosis of the disease, pre and post natally (Sarah)
  • Further research possibilities (Tim)
  • Image (Anna)

I would prefer it if i could do the introduction, historical background and diagnosis. I am willing to do 3 because the introduction is a pretty easy one. If anyone has a problem with this let me know. I also think first in best dressed to picking topics. I only think its fair and if not, we can sort it out later. --Sarah Jenkins 19:09, 15 August 2011 (EST)

Hi, thank you for the layout. I think it is a good start! I an still happy to do the drawings. So let me know if you have specific wishes or if you have suggestions of what we/I need to draw. I can also do Clinical manifestations and treatment options, which would make it three as well. However I thought pathogenesis will be a big one because that would include all the genetics. May be it will be enough if one person on it's own. Otherwise etiology would go well with it, leaving epidemiology and further research for the last one;) Further research might be big too... However, I am open to adjust. --Anna Marx 21:03, 15 August 2011 (EST)

Hey guys, sorry I haven't been in touch, just been busy with some orchestra stuff outside of uni. The stuff so far sounds great, I'll get to work tomorrow getting some papers together and seeing what I can find out about the condition. I wouldn't mind doing the epidemiology and pathogenesis sections - Anna, I think he said we only had to submit one self-drawn picture but I wouldn't mind doing some either, since I draw everything for anatomy :D either way, let me know what you think! So far things sound really great, thanks for getting so much done and once again my apologies for not having chucked in my two cents earlier! --Leonard Tiong 23:02, 15 August 2011 (EST)

Awesome, now that we are on the way there it should be easier to focus our reading. We also need to do a glossary, and i think its easier if we do it as we go. so when we come across words that need a definition (to non science people) just chuck it in the glossary. even if we define it later, having it there is easier than having to go through and pick them out later. :) thanks for being so enthusiastic. :) --Sarah Jenkins 07:13, 16 August 2011 (EST)

Hey guys, sorry for the late addition, busy with various other things as I'm sure most of you are! Im happy to take the two headings that are left over. Also it looks like some of the other headings might contain alot more work than the two I've got, i think the further research one could potentially contain alot but unsure at this i would be happy to share another one and help out if anyone would like?? It was suggested above that Pathogenesis and etiology could go well together.... Let me know. Glossary sounds like a great idea!

Also i thought it would be a good idea if before the lab on Thursday if we could each try to find say 2 articles that relate to the heading we have selected.. Similar to what Dr Hill asked us to do for last week but now we have our topics etc. it should help to get us up and running. --Timothy Ellwood 09:29, 16 August 2011 (EST)

I have set up sections below for us to put any references we find. it makes it easy to find the ones we need, and if other people come across good references for a topic other than their own it allows us to share :)--Sarah Jenkins 15:22, 16 August 2011 (EST)

Hey tim, more then happy to switch doing etiology with you but I wouldn't mind doing both together either. We'd better tell Mark to change our title over to DiGeorge's syndrome, I'll get some papers up in the mean time but will be really busy until thursday! :(

Update - Hey guys, just found a rather general article on DiGeorge but thought it was interesting, will leave the link here, if you guys got a moment have a trawl through :) I don't know what I'm still doing up at this hour :\ I'll have a read of it tomorrow morning :) --Leonard Tiong 23:55, 16 August 2011 (EST)

Assuming that was Leonard above? I dont mind at all, maybe we can talk about it on thursday and sort something out. In the meantime i guess ill try find whatever articles I can on both topics.

Also just thought i would point out this resource [1], as it says that DiGeorge Syndrome (DGS) falls under the the title of 22q11.2 Deletion Syndrome, which apparently includes a number of other very similar disorders such as Velocardiofacial Syndrome, Conotruncal Anomoly Syndrome, Autosomal Dominant Opitz G/BBB Syndrome, Cayler Cardiofacial Syndrome and Shprintzen Syndrome. Not sure if we wanted to include these in our research, but worth considering I think as there could be alot more research under one of these titles and allow us for a broader and more accurate picture of the disorder as a whole.

--Timothy Ellwood 15:21, 17 August 2011 (EST)

Good work guys, our project has taken shape already. I have now changed our project title, hence we should be safe and good to go! See you tomorrow in the lab --Anna Marx 20:19, 17 August 2011 (EST)

Things are looking really splendid guys, I'm starting my sections now but it doesn't seem like there's that much for me to write on. I'll try to see if i can spruce things up a little bit more. Referring to several textbooks (anyone got any suggestions?) for some of my basic info, and I'll find original sources later. But yeah, difficulties in trying to find specific information. Especially since there's so much overlap at the moment with the other different names. So far the four major ones that I got (I know you guys have included them) but four definite names involve (obviously) DiGeorge syndrome, Velocardiofacial Syndrome (VCFS), Conotrunchal anomalies facie syndrome (CTAF) Syndrome, and CATCH22. I don't think CATCH22 is a diagnostic name but rather a mnemonic that helps them remember the symptons of DiGeorge. Onto my writing! Just another thing that I'm well aware of, I haven't put many references into my work as of yet, still trying to find the best sources for the information. I've got a bunch of them written down and need to just go through them to make sure that I've the right sources from the right place but my laptops out of battery at the moment :( I'll try to get that done by tonight or tomorrow. :) --Leonard Tiong 18:25, 22 August 2011 (EST)

Review Article

Hey guys, just found a review article that I thought was rather interesting, it's an animal model for Duchenne's muscular dystrophy[2]. I also found a primary journal article that discusses drug delivery for the condition [3]. I will print these articles for myself tonight and give them a quick read tomorrow and then paste a quick summary of the articles here just for you guys to consider :)

Review Mammalian models of Duchenne Muscular Dystrophy: pathological characteristics and therapeutic applications.

Primary Detection of duchenne/becker muscular dystrophy carriers in a group of Iranian families by linkage analysis.

--Sarah Jenkins 10:00, 6 August 2011 (EST)

Primary Diagnosis and management of Duchenne muscular dystrophy in a developing country over a 10-year period.

Review Advances in Duchenne muscular dystrophy gene therapy.

--Anna Marx 12:52, 8 August 2011 (EST)

Duchennes Muscular dystrophy

--z3288827 21:53, 8 August 2011 (EST)

Review Article

Hey guys, just found a review article that I thought was rather interesting, it's an animal model for Duchenne's muscular dystrophy[4]. I also found a primary journal article that discusses drug delivery for the condition [5]. I will print these articles for myself tonight and give them a quick read tomorrow and then paste a quick summary of the articles here just for you guys to consider :)


[1] Nakamura A., Takeda S.; Mammalian Models of Duchenne Muscular Dystrophy: Pathological Characteristics and Therapeutic Applications, J. Biomedicine and Biotechnology Vol. 2011, Article ID 184393

[2] Yukihara et al; Effective Drug Delivery System for Duchenne Muscular Dystrophy Using Hybrid Liposomes Including Gentamicin along with Reduced Toxicity, J. Biol. Pharm. Bull, Volume 34, No. 5 pp. 712-716

Found References



DiGeorge Anomaly

Historical Background




A Genetic etiology for DiGeorge syndrome [6]

Inactivation of TGF􏰀 signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome [7]

A deletion in chromosome 22 can cause digeorge syndrome [8]

DiGeorge syndrome phenotype in mice mutant for the T-box gene [9]


[Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes]



Diagnostic Criteria


{ Seizures and EEG findings in an adult patient with DiGeorge syndrome: a case report and review of the literature.]



This looks like an excellent resource, listing over 100 research papers on nearly every aspect of DiGeorge from the 70's to present. [10]

Deciphering DiGeorge Syndrome: Big Advances In Understanding Microdeletions [11]


FISH carried out to detect DiGeorge syndrome. FISH is abbreviated as fluorescent in-situ hybridisation and is carried out to detect abnormalities whilst babies are still developing in the womb. --

FISH to detect DiGeorge syndrome[1]

Leonard Tiong 00:17, 17 August 2011 (EST)

DiGeorge T cell receptor Diversity post thymus transplant.jpg

--Sarah Jenkins 08:54, 18 August 2011 (EST)

Facial manifestations of patient with DiGeorge Syndrome

Facial manifestations of patient with DiGeorge Syndrome.jpg

--z3279511 21:18, 17 August 2011 (EST)

Peer Assessments

  • A very clear format has been used. The mixed use of dot points and paragraph form were used appropriately in most sections and made your web-page easy to read and follow
  • Good use of self drawn images, however the large image of Angelo DiGeorge seemed slightly irrelevant and took up a large portion of your page. Your first two images should probably have small heading below the image, just to make them a bit more clear to the reader.
  • A coherent history/timeline was used.
  • You’re referencing needs to be tidied up; there are multiple entries from the same source that tends to clutter your reference section. Some references are incompletely, or have no linking information such as reference 49.
  • Your current research section was good but perhaps could have been tabulated just for easier reading and to really draw out the main points.
  • Your table for clinical manifestations could have been summarised otherwise it should maybe just be written in paragraph form.
  • Your page definitely reflects the time and effort you have placed into the assignment. I really liked the range of formatting you used and the use of colour made your page easy to read and follow. Another great feature was the section based on the example of Tetralogy of fallot. It was interesting to read how other defects that we have discussed in class, linked in with your studied abnormality.

--Ashleigh Pontifex 15:21, 22 September 2011 (EST)