ChromosOmics - Database
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                        TL/hetmorh-book.jpg

                                                        >440 heteromorphism included                                                  
last update: 01. June.2020


How to cite this database:
Liehr T. 20
XXCases with Heteromorphisms.
http://cs-tl.de/DB/CA/HCM/0-Start.html  [accessed XX/XX/XXXX]
[VG-Wort (fb23afb386814048a4a4c5f80512e459)]
COUNTER

in 2019: 380
in 2018:
350
in 2017: 300
Created by Dr. Thomas Liehr (PhD)
professional affiliation: Institute of Human Genetics, 07740 Jena, Germany;
e-mail: Thomas.Liehr@med.uni-jena.de or: LiehrT@web.de




Basics on heteromorphisms Number of reported heteromorphisms by chromosome How to use this page
HETEROMORPHISMS BY CHROMOSOME
chr. 1   chr. 2  chr. 3 chr. 4 chr. 5 chr. 6 chr. 7 chr. 8
chr. 9 chr. 10 chr. 11 chr. 12 chr. 13 chr. 14 chr. 15 chr. 16
chr. 17 chr. 18 chr. 19 chr. 20 chr. 21 chr. 22 X-chr.  Y-chr.
DISCLAIMER
link helpful for diagnostics

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References

Aim of this page

1. collect all available case reports on chromosomal heteromorphisms primarily in clinical cases;
here rather the number of variants reported than the number of cases in which they were seen, is in the focus.

2. provide information for cytogeneticists, patients and clinicians


Basics on heteromorphims

The word "heterochromatin" was introduced in 1928 by Emil Heitz {86}

Heteromorphisms are copy number variantions (CNVs - loss or gain) of genetic material, which are so large that they can be visualized in the microscope. These heteromorphisms can be heterochromatic or euchromatic {1}.

CNVs can also be submicrocopic and are a big topic in molecular genetics, as well {1; http://dgv.tcag.ca/dgv/app/home}. Even though submicroscopic CNVs can also be hetero- or euchromatic, only euchromatic CNVs can be characteirzed at present by array-comparative genomic hybridization or sequencing.
Heteromorphisms were recognized shortly after chromosomes were analyzable systematically in the microscope and C-banding and NOR-staining were developed {2}.

Unfortunately heteromorphisms as well as CNVs are not treated equally; i.e. if a CNV or heteromorphism is rare and/or large it is mentioned in clinical reports. If it is well-known and/or frequent there is a tendency not to mention in a report.
Frequencies of heteromorphisms are not well known by now. There are differences in human subpoplulations - but these are not (well) documented {1}.
A small study in 2017 showed no difference in frequency of heteromorphisms in naturally concieved and ICSI/IVF-children {84},
The practical meaning of heteromorphisms (acc. to {1}) is that the may be helpful to:
- determine paternity
- differentiate between mono- and dizygote twins
- determine parental origin of additional and/or derivative chromosomes or of haploid sets in triploidy and chimeras
- detect maternal contamination in amniotic fluid cell cultures
- follow up bone marrow transplantation
- find genetic linkage.

Also there are reports on heteromorphims appearing in mosaic, which were interpeted as mitotic chromosomal evolution rather than chimerism {1, page 46}.
In literature from the  1980s it was already shown that heterochromatic repetitive sequences of the genome are translated to RNA in embryogenesis and also in tumors (reviewed in {1}). This is at present redicovered (e.g. {88; 89}).

It must be stressed that heterochromatic CNVs can not be vizualized equally using different staining or banding techniques and
that standards what a heteromorphism are not existant apart from some suggested in
{1}.
 A nice example is provided in a paper from 1972, where heteromorphisms were summarized for flourescent Q-banding (not for GTG-banding!)
and reported for pericentric regions of chromosomes 1, 3, 4, 9, 13, 14, 15, 16, 21 and 22 in two patient groups studied in two different labs,
There they evaluated using two different evaluation schemes concerning what is a heteromorphism.  So there were different frequencies found.
Interestingly, heteromorphisms for chromosome 9 were only seen in  one lab, and there in 0.28% of the cases {87}.

How to use this page?

This page is organized like the 'sister-page' on small supernumerary marker chromosomes (sSMC)
- the structure is explained here.
However, here not the number of reported cases is documented, but the different variants.
Also take care that the nomenclature here is not always done acc. to ISCN !!

Number of heteromorphisms included in this page 


chr. heterochromatic euchromatic SUM
centromeric inversions others deletions duplications
1 5
2 6 4 8
25
2
2
1 2 6 6 17
3
7 4 2 5
6 24
4
4
-
2 10 5 22
5
4 1 3 7 7 22
6
5 1 3 3 7 19
7
2 - 3 2 5
12
8
2 - 2 4 7 14
9
9 7
2 5 7 30
10 2 1 1 5 5 14
11 3
- 3 6 5 17
12 4 - 3 2 6 16
13 9
- 2 8 9 28
14 9 - 3 3 4 19
15 9 2 5 1 3 20
16 5 1 1 4 7 18
17 2 - 3 2 1 8
18 4 - 1 10 7 22
19 4 - 1 1 1 7
20 2 1 2 2 2 9
21 11 - 5 4 3 23
22 10 1 8 5 2 26
X 2 - 3 1 3 9
Y 4 1 4 3 3 15
acro
8 - - - - 8
SUMMARY 128 23 68 104 115 445


centromeric inversions others deletions duplications SUM
heterochromatic euchromatic



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