New Essay from Earth/matriX
The Earth/matriX Human Karyotype &
Table of Chromosomes, Genes and Related Diseases
(A Proposal: Down Syndrome, C 1',
by Charles William Johnson
Presentation and Disclaimer
The karyotype of chromosomes is generally presented by size, from larger to smaller. Yet, scientists assign a larger identifier number to the smaller chromosomes, and a smaller identifier number to the larger ones [autosomes 22-1 decrementally]. This contradiction of larger-to-smaller chromosomes by size with a classification order of smaller-to-larger numerical values causes difficulties in analytic perception and the possibility of identifying patterns among the chromosomes.
Chromosome 1, the smallest number, is assigned to the "largest" chromosome in size [247 million base pairs]. Chromosome 22, the "largest" number, is assigned to the supposedly "smallest" chromosome in size [49.5 million base pairs]. The images of the human karyotype generally show from the larger to smaller sizes of the chromosomes. The non-numerically identified sex chromosomes [X, Y] are attached at either the beginning or the end of the karyotypical listing of the autosomes [22-1].
Now, aside from the contradiction between assigned incremental numbers to the chromosomes [1 > 22] and decremental chromosomal size [247 < 49./5], there is yet another significant problem. Years ago, scientists have discovered that chromosome 21, related to Down Syndrome, is smaller than chromosome 22. So, actually chromosome 1 is not the smallest; rather, chromosome 21 is the smallest by size [46.9m bp]but inverted on the list with chromosome 22.
These two chromosomes, 22 and 21, should be inverted on the karyotype classification by size, in order to respect the criterion employed by size, but they are not. I have not found an example where they appear correctly by size in the science literature. Therefore, the following of the criterion used in the human karyotype, larger-to-smaller sizes, is actually ignored on purpose. The reason given for placing chromosome 21 out of order by size is that presenting the chromosomes on the karyotypes by inverting chromosomes 22 and 21 would create "chaos" ---given their traditional use and the significance of chromosome 21 for identifying Down Syndrome [Trisomy 21].
My formal education has been within the social and political sciences as a researcher and professor on the study and teaching of methodologies in those sciences. [Discussions about the differences between the social/political sciences and the exact sciences have been addressed in other essays.] I am not a medical doctor and have no formal training in medicine.
The essay that I am presenting here on the human karyotype of chromosomes concerns the specific proposal to recognize the significance of correcting the two errors cited above. I perceive these two aspects to represent errors within the methodological classification of a chromosomal human karyotype. They may have significant meaning for the possible classification of chromosomal diseases in general, and for Down Syndrome in particular. I affirm this because once the errors are corrected on the karyotype classification, as I have done, then patterns and periodicities appear. Some of the patterns and periodicities are presented in this essay/proposal [Down Syndrome C 1'; Edwards Syndrome C 5'; Patau Syndrome C 10'; Warkany C 15'; and, Chromosome 20', Partial Trisomy 3q Syndrome].
By following the two corrections to the human karyotype proposed in my essay, Down Syndrome thus corresponds to the first place on the autosomal list by smallest size: Chromosome 1', Trisomy 1'. I have added the indicator of "prime" to the classificatory numbers in order to distinguish them from the traditional system.
New Chromosomal Order Based on Traditional Data:
Select Total Base Pairs
A Proposal by Earth/matriX
Aside from the pattern in the previous table, note the fractal relationship of numbers between the new chromosomal number and the expression of total base pairs. This relationship is not only easy to remember but consequential with the now corresponding incremental progressions of both series of numerical values. In my view, this fractal correspondence of values represents a confirmation of my proposal forwarded in this essay to invert the numbering system of the chromosomes on the human karyotype.
My essay is addressed to the theme of methodological classification. I make a proposal to correct the natural progression of size in chromosomes in correspondence with their numerical identifier. That is, to identify the autosomes 1-22 from smaller to larger size, contrary to the classification system used today from larger to smaller size. And, on that same incremental progression by size, I propose to consequently recognize the known discovery that chromosome 21 is smaller than chromosome 22, and make the corresponding necessary adjustments on the human karyotype
This essay treats methodological points. My observations on methodology have no pretense of offering any opinion or information about the nature of chromosomes or related chromosomal diseases. The purpose of this essay is strictly for purposes of discussing the order used in the classification of the chromosomes as presented generally in the science literature.
All of the points briefly touched upon in this Presentation are examined in detail with numerous charts and tables in the essay now being offered. I recommend reading the entire essay in order to consider the reasoning behind the proposal to modify the human karyotype in use today.
©2010-2013 Charles William Johnson
This "Presentation and Disclaimer" correspond to the Earth/matriX essay entitled, Down Syndrome C 1', The Earth/matriX Human Karyotype & Table of Chromosomes, Genes and Related Diseases (A Proposal), Earth/matriX Editions, P.O. Box 231126, New Orleans, Louisiana 70183-1126, USA. Publication date 28 May 2013, and referenced as: