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Pallister鈥揔illian syndrome article. This is not a forum for general discussion of the article's subject. |
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I have a few concerns about the accuracy of this article.
The first being the suggestion that only skin cells have the error in genetic code causing the syndrome--if this were true, than only the skin would be affected. To have symptoms of other physical attributes & mental retardation there would have to be errors in the genetic code in those areas of the body as well.
Secondly, an amniocentesis involves removing amniotic fluid from around the fetus. This fluid is composed of many different things, one of them being shed epithelial (skin) cells. In fact, it is from these skin cells that most genetic testing from an amniocentesis is done. In fact, the 1st resource cited in this article states that PKS is suggested as a diagnosis if physical deformities are visible on ultrasound OR if indicated by chionic villi sampling or amniocentesis--which suggests that the genetic error is possible to detect from wither of these tests.
I am not an expert on this subject, but have some knowledge about genetic & obstetric tests. If someone has the answer to these concerns or can explain the seeming incongruencies I would greatly appreciate it. I just think that if information is going to be presented to people, it might as well be correct.
67.168.52.203 23:18, 5 June 2006 (UTC)
Sorry, that "fact" is wrong. PKS does not exist only in skin cells, this is just where it is most easily detected. There is now a paper discussing blood-based detection, but I know that blood work was used as an initial indicator as early as 2004. (biopsies are the only conclusive method, based on the need (i believe) to culture/grow cells from a multi-cell sample.) Dr. Pallister once speculated that this might be due to cells with the PKS trait not propagating as well as those without it. There's also a fine grammar issue with the statement: Cells don't have PKS, people have PKS. Cells may have the genetic alteration that cause PKS. But this "fact" was way back in 2006, so I forgive.聽:) - JeffJonez ( talk) 13:45, 28 June 2009 (UTC)
Pallister-Killian syndrome is NOT only mosaic. My first born had this condition and the extra isochromosome was in all of the tested cells. The doctors told me it was not mosaic. It WAS diagnosed via amniocentesis. 鈥擯receding unsigned comment added by 24.247.181.166 ( talk) 01:27, 6 February 2010 (UTC)
Unique, the rare chromosome disorder support group, has the most up-to-date information on PKS. http://www.rarechromo.org/html/home.asp Leaflet: http://www.rarechromo.org/information/Chromosome%2012/Pallister%20Killian%20FTNW.pdf 鈥擯receding unsigned comment added by 89.240.228.219 ( talk) 01:19, 4 December 2010 (UTC)
This is the
talk page for discussing improvements to the
Pallister鈥揔illian syndrome article. This is not a forum for general discussion of the article's subject. |
Article policies
|
Find medical sources:聽 Source guidelines聽路 PubMed聽路 Cochrane聽路 DOAJ聽路 Gale聽路 OpenMD聽路 ScienceDirect聽路 Springer聽路 Trip聽路 Wiley聽路 TWL |
Ideal sources for Wikipedia's health content are defined in the guideline
Wikipedia:Identifying reliable sources (medicine) and are typically
review articles. Here are links to possibly useful sources of information about Pallister鈥揔illian syndrome.
|
A fact from Pallister鈥揔illian syndrome appeared on Wikipedia's
Main Page in the
Did you know column on 6 June聽2006. The text of the entry was as follows:
|
This article is rated Start-class on Wikipedia's
content assessment scale. It is of interest to the following WikiProjects: | |||||||||||||||||
|
I have a few concerns about the accuracy of this article.
The first being the suggestion that only skin cells have the error in genetic code causing the syndrome--if this were true, than only the skin would be affected. To have symptoms of other physical attributes & mental retardation there would have to be errors in the genetic code in those areas of the body as well.
Secondly, an amniocentesis involves removing amniotic fluid from around the fetus. This fluid is composed of many different things, one of them being shed epithelial (skin) cells. In fact, it is from these skin cells that most genetic testing from an amniocentesis is done. In fact, the 1st resource cited in this article states that PKS is suggested as a diagnosis if physical deformities are visible on ultrasound OR if indicated by chionic villi sampling or amniocentesis--which suggests that the genetic error is possible to detect from wither of these tests.
I am not an expert on this subject, but have some knowledge about genetic & obstetric tests. If someone has the answer to these concerns or can explain the seeming incongruencies I would greatly appreciate it. I just think that if information is going to be presented to people, it might as well be correct.
67.168.52.203 23:18, 5 June 2006 (UTC)
Sorry, that "fact" is wrong. PKS does not exist only in skin cells, this is just where it is most easily detected. There is now a paper discussing blood-based detection, but I know that blood work was used as an initial indicator as early as 2004. (biopsies are the only conclusive method, based on the need (i believe) to culture/grow cells from a multi-cell sample.) Dr. Pallister once speculated that this might be due to cells with the PKS trait not propagating as well as those without it. There's also a fine grammar issue with the statement: Cells don't have PKS, people have PKS. Cells may have the genetic alteration that cause PKS. But this "fact" was way back in 2006, so I forgive.聽:) - JeffJonez ( talk) 13:45, 28 June 2009 (UTC)
Pallister-Killian syndrome is NOT only mosaic. My first born had this condition and the extra isochromosome was in all of the tested cells. The doctors told me it was not mosaic. It WAS diagnosed via amniocentesis. 鈥擯receding unsigned comment added by 24.247.181.166 ( talk) 01:27, 6 February 2010 (UTC)
Unique, the rare chromosome disorder support group, has the most up-to-date information on PKS. http://www.rarechromo.org/html/home.asp Leaflet: http://www.rarechromo.org/information/Chromosome%2012/Pallister%20Killian%20FTNW.pdf 鈥擯receding unsigned comment added by 89.240.228.219 ( talk) 01:19, 4 December 2010 (UTC)