Talk:Chromosome abnormality

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Copy number variation

It is said on the page about CNV that it is a subtype of chromosomal abnormality. If so, maybe it should be mentioned here? --CopperKettle (talk) 18:25, 20 November 2008 (UTC)

New abnormalities due to transgenic technology

It has been observed in Arabidopsis thaliana a work by Elena Alvarez-Buylla, that the insertion of transgenes in different places of genome results in very different monstrous plants, far from what is desired from the other spices gene.

I think that this, artificial phenomenon should be included in this article, but I am not qualified to write about it, I just know the phenomenon and is important to include it here.

On other hand, this kind of phenomenon, a similar one, is also known to happen as an evolution mechanism. Does anyone know the detail, does it only came by symbiosis in the way described by Lynn Margulis?

Please some biologist help in writing this topics. —Preceding unsigned comment added by 189.140.204.187 (talk) 15:23, 5 November 2009 (UTC)

Proposed addition of new tables

I drafted some tables that might be nice for the article. Requesting criticism and fact-checking.

Chromosomal abnormalities

key

color	significance
	lethal
	male phenotype
	female phenotype
	Turner's syndrome
	Klinefelter's syndrome

Non-autosomal

	0	X	XX	XXX	XXXX
0	00	X0	XX	XXX	XXXX
Y	0Y	XY	XXY	XXXY	XXXXY
YY	YY	XYY	XXYY	XXXYY	XXXXYY
YYY	YYY	XYYY	XXYYY	XXXYY	XXXXYY
YYYY	YYYY	XYYYY	XXYYYY	XXXYYYY	XXXXYYYY

Autosomal

#	monosomy	trisomy
1
2
3
4	Wolf-Hirschhorn syndrome
5	Cri du chat 5q deletion syndrome
6
7	Williams syndrome
8		Warkany syndrome 2
9		Trisomy 9
10
11	Jacobsen syndrome
12
13		Patau syndrome
14
15	Angelman syndrome Prader–Willi syndrome
16		Trisomy 16
17	Miller-Dieker syndrome Smith-Magenis syndrome
18	18q deletion syndrome	Edwards syndrome
19
20
21		Down syndrome
22	DiGeorge syndrome	Cat eye syndrome Trisomy 22
23

Thanks! -Craig Pemberton 05:17, 3 April 2011 (UTC)

I am new in this but i like this table, maybe you could add more details to it, like chance of accuring , or in what way chromosome is modified. (if that makes sense.) like this: [chromosome number][syndrom name][modification_type][chance] ...— Preceding unsigned comment added by 89.172.161.35 (talk) 15:06, 1 June 2011 (UTC)

Adding to the main page, maybe it will get more attention there. Craig Pemberton 05:22, 3 June 2011 (UTC)

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Chromosome abnormality synonyms

This diff brought my attention to the list of the synonyms in the lead. Chromosome abnormality () is related to one or more chromosomes (it's not about a single chromosome), i. e. it's about deletion, duplication, rearrangement of chromosomes. But chromosome mutation () is about genes in a single chromosome; even if it describes translocation, it still describes the affected chromosome itself.
Long story short, a chromosome abnormality describes abnormality of chromosomes in DNA, and a chromosome mutation describes an abnormality of genes in a chromosome. So those terms are similar but not synonymous.
@Nediciki: @Mathglot: Please, take a look at the difference between terms. And Nediciki, thanks for pointing this out! D6194c-1cc (talk) 08:43, 29 August 2025 (UTC)

D6194c-1cc, thanks for your comment. The problem with this edit by Nedicki is that their change was based on their own reasoning about the difference between a transition and a state, as seen in their edit summary; this is pure original research having nothing to do with any published source, or anything in the body of the article, and original research is prohibited in Wikipedia. In fact, sentence three of the lead talks once again about chromosomal mutation, sourcing it to Rieger, Michaelis and Green (1968). If that is wrong, it should be corrected with reference to sources.

If you want to discuss the difference between "gene mutation" and the (apparently mostly former) use of "chromosomal mutation" and whether they are dissimilar enough that it should not be included here, you can do that, but it can't just be based on your own knowledge and opinion about these terms.

If you want to take a deeper dive: looking at the history about why the terms are here and why they are bolded: the terms are here partly because there is no article at Wikipedia for 'chromosomal mutation' and in 2014 User:Fundon1 judged that this article was the best destination for readers searching for that topic, and retargeted the redirect 'chromosomal mutationchromosomal mutation' to point to this article (here; formerly, it pointed to Mutation.) Fundon1 also added the term 'mutation' to the lead sentence at the same time, in this edit, bolding it, apparently per MOS:BOLDSYN as an "alternative name" of the page title. The term 'mutation' was later updated to 'chromosomal mutation' in this edit by SCIdude, with bolding retained.

The term chromosomal mutation (or chromosome mutation) is used in three places in the article; for example, in section § Acquired chromosome abnormalities, where it is sourced to Brown (2002). If the term chromosome/-al mutation is used incorrectly in the article, then it should be fixed by fixing the body of the article first, and it must be based on a reasonable assessment of what reliable sources say about it. Once the usage in the body of the article has been updated, then, and only then, you can adjust the lead to better summarize use of the term in the body. What an editor cannot do, is waltz into an article and alter the lead sentence based on their own opinion of what a term means, disregarding usage of a term in the body, and without reference to any reliable source. Thanks, Mathglot (talk) 17:35, 29 August 2025 (UTC)

I didn't find any description of those terms as synonyms in the sources in the lead (and I doubt that such sources exist, unless they are based on Wikipedia). So currently, the lead is an original research (it violates Wikipedia:No original research). As for the comment of the Nedicki's edit, it just describes why there was an original research in the lead, in its own way.
If the edit justifies the text with the sources, then it cannot be an original research. D6194c-1cc (talk) 20:09, 29 August 2025 (UTC)