Talk:Miller–Dieker syndrome

note

I am username taylorschellingberger and I am improving this page for a class project under the supervision of Mr. Travis Bohrer. — Preceding unsigned comment added by Taylorschellingberger (talk • contribs) 14:06, 19 March 2013 (UTC)

Not autosomal dominant in the usual sense

Could someone with some time please edit this entry, and certainly remove the diagram? Miller-Dieker syndrome is NOT autosomal dominant in the usual sense because people with it do not survive to adulthood, so cannot become parents. A much better description is given at the U.S. National Library of Medicine®'s Genetics Home Reference, http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome

Thanks. Baratron (talk) 05:23, 30 November 2010 (UTC)

Thank you! Is this better? :-) Rcej (Robert) - talk 06:56, 30 November 2010 (UTC)

Definitely better! I'll keep this page watched and perhaps have a go myself when I'm not in the middle of a thesis on a completely different topic! Baratron (talk) 10:09, 1 December 2010 (UTC)

Not autosomal dominant, or (almost) never in practice acquired in such fashion?

I have just removed several misleading mentions of autosomal dominant inheritance, plus the misleading (according to the article text, which is not well referenced) infobox.

Autosomal dominant inheritance from an affected parent does not seem to be a usual way of acquiring this condition due to its reduced life expectancy; indeed, I am unclear if there is any evidence it has ever happened, and emphasising it is at best unhelpful.

Autosomal dominant is where the gene causing a state is dominant thus leading to its expression in the phenotype whenever present. This type of inheritance requires an affected parent and leads to a 50% chance of inheriting the condition when one parent is affected and the other not.

According to the article text, no two unaffected parents have that chance of having an affected child, even if they have the balanced translocation. The infobox in particular suggested both this 50% chance and that one of the parents must be affected, and that is not merely misleading but potentially very distressing for parents with no previous knowledge researching their child's diagnosis or possible diagnosis.

It is not clear if "autosomal dominant" is incorrect, rather than merely misleading, as in, if someone with the condition did have children, those children might inherit in an autosomal dominant fashion, but emphasising this is only useful the condition is compatible with having children.

I did wonder if something like "It [MDS] is thought to be inherited from an affected person in an autosomal dominant manner, but due to limited life expectancy, this is rarely or never relevant," should be added at the end of the section on cause. (I didn't because I have no citation).

This article could do with attention from someone with more specialist knowledge! FloweringOctopus (talk) 18:40, 8 June 2023 (UTC)