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>420 heteromorphisms included
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
last update: 18.05.2017

 

How to cite this database:
Liehr T. 201
X. Cases with Heteromorphisms
http://ssmc-tl.com/HMs.html[accessed XX/XX/XXXX]



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References


 

     
  AIM OF THIS PAGE  
  BASICS ON HETEROMORPHISMS
  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.
acro
chrs.

     
  DISCLAIMER  

links helpful for diagnostics:


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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

 


How to use this page

This page is organized like the 'sister-page' on small supernumerary marker chromosomes (sSMC) - the structure is explained here

 


References

BASICS ON HETEROMORPHISMS

 

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}.

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}.

 


Number of heteromorphisms included in this page

    heterochromatic euchromatic SUM  
  chr. centromeric inversions others deletions duplications  
  1 5 2 6 4 8 25  
  2 2 1 2 6 4 15  
  3 6 4 2 5 5 22  
  4 4 - 2 9 5 21  
  5 4 1 2 6 7 20  
  6 5 1 2 3 7 18  
  7 2 - 3 1 4 10  
  8 2 - 1 3 6 12  
  9 10 7 2 5 6 30  
  10 2 1 1 5 5 14  
  11 3 - 3 6 5 17  
  12 4 - 3 2 6 16  
  13 9 - 2 8 8 27  
  14 9 - 3 3 4 19  
  15 9 2 4 1 3 19  
  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 1 - 2 2 2 7  
  21 11 - 5 4 3 23  
  22 10 1 8 4 2 25  
  X 2 - 2 1 3 8  
  Y 4 1 3 3 3 14  
  acro 7 - - - - 7  
  SUMMARY 126 22 64 99 108 424  
  chr. centromeric inversions others deletions duplications SUM  
    heterochromatic euchromatic