Talk:Genetic disorder

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It would be interesting to see some data and citations on the comparison of humans and other mammals, especially primates in regard to genetic disorders and to see some citations from experts on why this may be, because it is pretty staggering that we humans evolved from stronger, healthier animals yet the human fossil record shows that we have suffered genetic abnormalities for almost our entire tenure on this planet, ie. over 200,000 years. Proof Reader (talk) 07:21, 1 September 2009 (UTC)[reply]

Recessive disorders appears to have been merged into this article in the past.Leevanjackson 13:34, 12 August 2006 (UTC)[reply]

82.27.24.198 09:42, 19 October 2006 (UTC)[reply]

This is not a stupid question. However, one point of clarity is necessary. A disease defined as "fatal" or "lethal" is often deadly in the embryonic stage, so it may not be observed in the population. If such a disease is fatal in only men or only women, it is usually because of its locus on the sex chromosomes. See the section on this page about X-linked dominant diseases for an example and explanation. - Raetzsch 19:37, 6 December 2006 (UTC)[reply]

I believe that 'Polygenic' should not redirect here. In its simplest context, the word 'polygenic' describes any phenotypic trait that is attributed to multiple genes. A disease state is not implied. See http://www.medterms.com/script/main/art.asp?articlekey=4986 for a general definition. - Raetzsch 04:31, 15 November 2006 (UTC)[reply]

surely it would be better to say that radiation can cause genetic disorders, rather than just mentioning Japan. Judderman85 15:06, 9 December 2006 (UTC)[reply]

If anyone has any expertise in this area, the article needs some considerable expanding. A section on how chromosome disorders occur, and what can be done about them is needed. Also, the "Study of Genetic Diseases" and "Medical diagnosis, treatment, and counseling" Stubs need expansion.NightFalcon90909 14:35, 7 January 2007 (UTC)

If the only Y-linked disease is infertility, then explain this statement: "All of the sons of an affected father are affected." I highly doubt that infertile men get medical help to produce infertile sons. Or?

One new addition to the list is rice-brand earwax, a type of ear excretion that lacks moisture. Please see note #1 for more info. —The preceding unsigned comment was added by Uniblitz (talk • contribs) 14:56, 13 May 2007 (UTC).[reply]

Is this really called "rice-brand" ear wax? The term seems offensive.

Don't have time to check this out right now - but in the table it mentions most autosomal dom have low penetrance, eg HD. But it looks to me that HD is high penetrance (95%) and I wonder if mostare high penetrance? Leevanjackson (talk) 13:05, 27 November 2007 (UTC)[reply]

Can we change the title of this article to "Genetic condition", which is the term most genetic professionals use? It is more neutral & patient friendly. In Wikipedia:Manual of Style (medicine-related articles)#Careful language, caution on the use of the word "disorder" is advised for this reason.Kxw1 (talk) 16:58, 19 December 2007 (UTC)[reply]

What would people think about re-organizing the headings to include the X-linked and Y-linked conditions under a more cohesive heading, "Sex-linked disorders"? I know that books use the terms X-linked dominant and X-linked recessive, but these distinctions can be confusing with regard to conditions where the phenotype can be milder in females (example: Ornithine Transcarbamylase deficiency), or when aspects of the phenotype arise in female carriers later in life (example: cardiomyopathy in carriers of Duchenne Muscular Dystrophy mutations).

It would be much simpler to handle these all under the same heading and discuss the issues of hemizygosity in males and X-inactivation in females, both of which impact the expression of the X-linked syndromes.

Any thoughts? Medical geneticist (talk) 22:09, 8 August 2008 (UTC)[reply]

Sounds like a good idea - as it would be more readable to the average person. LeeVJ (talk) 01:34, 9 December 2008 (UTC)[reply]

the X linked recessive bit is wrong i think. if the woman has the condition, and its recessive, then she has 2 (X) copies of the recessive gene. therefore she will give all her sons a copy of the recessive X gene, ie 100% chance the son will have the condition. and similarly her daughters will 100% have at least one copy of the X gene, the other X coming from the father, who may or may not have the condition. or so it seems to me. —Preceding unsigned comment added by 134.36.53.243 (talk) 14:13, 12 May 2009 (UTC)[reply]

Fixed. This may have been a typo because it looked like the intent was for the example to be a female carrier of an XLR condition. --- Medical geneticist (talk) 16:37, 21 May 2009 (UTC)[reply]

How is DNA used to identify people. THIANYU (talk) 10:16, 19 February 2009 (UTC)[reply]

Klinefelter's symdrome is not an X-linked disorder. It is usually caused by non-dysjunction, the genotypic appearance being XXY, or XXXY instead of normal XY. The only X-linked dorminant disease welknown in humans is Vitamin D Resistant Ricket. —Preceding unsigned comment added by 220.255.7.157 (talk) 12:57, 21 May 2009 (UTC)[reply]

This passage was a bit misleading so I went ahead and changed it up a bit to clarify. I don't think that the original editor meant to imply that Klinefelter syndrome is X-linked dominant, rather to use it as an example in which a male could be affected with Rett or Aicardi. Hopefully it makes more sense now? I also added your example of XL Rickets which is of course a classic example that should have been there to begin with. --- Medical geneticist (talk) 16:40, 21 May 2009 (UTC)[reply]

Why does "Monogenic disorder" redirect here? Is it a synonym for "Single gene disorder"? If so, I would specify it somewhere. Like for instance at the beginning of the section "Single gene disorder".
212.126.224.100 (talk) 14:02, 22 September 2010 (UTC)[reply]