Talk:Pallister-Killian syndrome

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An entry from Pallister-Killian syndrome appeared on Wikipedia's Main Page in the Did you know? column on 5 June 2006.

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Strike through when completed. Expand infobox Picture Sections: History Prognosis Social impact Prevention (is this applicable to a nonheritable genetic condition?JeffJonez 06:56, 4 December 2007 (UTC)) See also External links See WP:MEDMOS for suggestions
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[edit] errors?

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)

See the sources. They say what is said in the article. The likelihood of the skin cells being analyzed is so low that the prenatal tests can almost never see PKS. — Scm83x ^{hook 'em} 00:28, 6 June 2006 (UTC)

The information about detection methods for PKS is correct. Skin biopsies are the most reliable method of confirming the presence of affected cells, since -- due to mosaicism -- only some cells have the PKS trait. This may be due to the relative long life of skin cells. JeffJonez 19:37, 19 October 2007 (UTC)