FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

-  sSMC  -

 

 

 

 Sorry we had to move again

new presence at http://ssmc-tl.com/Start.html

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

NOW ~4,950 cases / markers collected
For detailed figures click here

Created by Dr. Thomas Liehr (PhD),
Institute of Human Genetics, 07740 Jena, Germany; e-mail:

last update: 13.12.2013

 we have ~250 visitors per month


How to cite this database: If you use the information contained in this website, please cite as follows:
Liehr T. 201
X. Small supernumerary marker chromosomes.
http://www.fish.uniklinikum-jena.de/sSMC.html. [accessed
XX/XX/XXXX]


 References


 Buch gr 1   sSMC-book published in 2011/12   Buch gr 1

 

AIMS OF THIS PAGE

 
  Problems, achievements and acknowledgments  
 

PATIENT AND USER INFORMATION

 
  Information for families (in 25 languages) Patient organizations How to use this page?  
 

BASIC INFORMATION ON sSMC

 
  What are sSMC? A definition: What do sSMC? First description of sSMC?  
  Euchromatin on sSMC: Mosaicism in sSMC: sSMC and uniparental disomy (UPD):  
  Synonyms for sSMC: Frequency of sSMC: Formation of sSMC:  
 

sSMC BY CHROMOSOME

 
   sSMC  
1
sSMC
2
  sSMC 
3
    sSMC   
4
sSMC 
5
   sSMC
   (1)/5/19 
   sSMC  
6
sSMC
7
sSMC
8
 
  sSMC
9
sSMC
10
sSMC
11
sSMC
12
sSMC
13
sSMC
13/21
sSMC
14
sSMC
14/22
sSMC
15
 
  sSMC
16
sSMC
17
sSMC
18
sSMC
19
sSMC
20
sSMC
21
sSMC
22
sSMC
X
sSMC
Y
 
  sSMC
acro
sSMC
non-acro
sSMC
multiple
  McClintock
mechanism
  sSMC
+21
46,X,
+sSMC X
46,X,
+sSMC Y
 
 

FOR CLINICIANS AND CYTOGENETICISTS

 
  Suggestion for management of an sSMC detection Special FISH-probes for sSMC characterization  Submit your case  
 

Else Kröner-Fresenius-cellbank for small supernumerary marker chromosomes
in short: Else Kröner-Fresenius-sSMC-cellbank

 
  sSMC studies carried out at our institute are approved by the ethical commission of the Friedrich Schiller University (FSU) Jena, Germany - internal code 1457-12/04.  

 

 


Aim of this page

 

1. collect all available case reports on small supernumerary marker chromosomes (sSMC)

2. define critical regions for partial trisomies due to the presence of sSMC

3. provide information for patients and clinicians

4. offer possibility to characterize sSMC in detail

--> contact Dr. Thomas Liehr, Jena:

 

 

 

 

 

 


Problems when an sSMC is detected

 

According to {70} "there are several reasons for the difficulty to relate clinical syndromes to the occurrence of sSMC: 

1. sSMC chromosomes can be derived from any chromosome.

2. Even if two sSMC originate from the same chromosome, they still often differ in size and in the content of euchromatic material from either or both arms of a chromosome.

3. Structural variants of sSMC, e.g., ring formation, have been described.

4. Some patients have multiple sSMC of different origin.

5. Single or multiple sSMC often occur in a mosaic form."

6. Silent euchromatin duplication are described - what about silencing in sSMC? {111}

7. 4/10 sSMC could not be characterized by array-comparative genomic hybridization!! {176}

 

Further information on centromeres see Refs: {154-155}

References

 

 

 

 

 

 

 


Achievements

 

Here an up-to-date page is provided, which provides

 

- a collection of all published sSMC by chromosome

- genotype-phenotype-correlation for centromere-near chromosomal imbalances

- a collection of all published cases with uniparental disomy (UPD), as UPD is also a problem relevant in sSMC

- sSMC basic data in 25 languages

- the possibility to submit an sSMC case to the collection

- a book on sSMC (available since November 2011)

 Buch kl

 

 

 


Acknowledgments from patients and clinicians (anonymized)

 

From UK (2012):

We so appreciate your professional excellence and kind sensitivity in
supporting us so closely through this.

From Italy (2012):

Thanks a lot for your friendly support and qualified subject-specific guidance
supporting us on our not that easy way to come to a decision concering our actual pregnancy.
 

From China (2010):

Thank you so much for the detailed answers,
it gives us even more confidence on the upcoming baby!
Many thanks again and wish you all the best as well!

From USA (2009):

Thanks a lot for your response.
We will definitely consult you in the future if needed.
Again, we deeply appreciated your help. Wish you the best in your research,
which is certainly very important for parents like us.

 

From USA (2007):

My husband and I can't thank you enough for all the time you have spent on our case.
We so appreciate all you have done to help us to get through this difficult and unsure time.
We have looked at your website many times and are trying to figure out which
markers are most similar to ours. …And again, I so appreciate all your efforts on
our case - not just your testing, but your attention and advice.

 

From Germany (2007- translated):

Thank you very much indeed for your quick response and support.
It is good to known to have someone giving support in this situation. We hope
that many expectant parents will profit in future from your work and dedication, as well.

 

From Germany (2006- translated):

What started with a lot of doubts and worries in
this spring now in autumn had a happy end. This week our daughter was born.
She is healthy, wide-awake and certainly gorgeous. We are relieved and overjoyed.
We want to thank you again for your quick and straightforward help
and assure that your mail-contacts were extremely helpful to deal with the uncertainty.

 

From UK (2006):

Thank you very much. I greatly appreciate your help with this case.

 

 


Frequency of small supernumerary marker chromosomes (sSMC):
  according to their chromosomal origin {based on this page};

N.B: in case of cryptic mosaicism of the sSMC, the shape the most frequently occurring variant is included in the following table

 

      Chromosome    

centric minutes  rings    inv dup / i / idic neocentric
 markers IN SUMMARY 
"simple" complex "simple" complex "simple" complex clinical
tumor unspec.
# 1  24 - 47 - 2 - 7 1 15 96
# 2  17 - 24 - 2 - 4 - 11 58
# 3  16 - 12 - 1 - 10 4 3 46
# 4  12 2 14 - 1 - 2 - 4 35
# 5  29 - 12 - 29 - 1 - 8 79
# 6  8 - 10 - 1 - 2 - 2 23
# 7  15 1 15 - 1 - 2 - 6 40
# 8  36 1 47 - 23 - 14 - 10 132
# 9  22 1 16 - 87 - 4 1 6 137
#10  10 - 5 - 1 - 2 - 4 22
#11  9 2 13 1 - - 2 - 7 34
#12  17 2 15 - 375 - 5 - 3 418
#13  5 3 2 - 5 1 20 - 3 39
#14  29 9 8   83 1 1 - 19 150
#15  53 16 28 - 863 - 31 - 143 1136
#16  29 - 25 - 2 - 2 - 21 79
#17  26 1 7 - 1 - 1 - 3 39
#18  21 3 14 - 272 - 1 - 22 338
#19  25 1 28 - -   1 - 8 63
#20  22 - 19 - 2 - 2 - 10 55
#21  25 2 7 - 9 - - - 5 48
#22  36 360 13 - 344 - - - 29 781
13 - 21 - - - 2 - 3 37
X in 46 chr.
32 - 120 - 1 - - - 29 182
4 - 6 - 8 - 1 - 2 21
Y in 46 chr.
9 - 62 - 311 - - - 44 426
no X/Y in 46 chr. 1 - - - - - - - 3 4
#13 or #21  14 12 4 - 66 - - - 42 138
#14 or #22  13 1 - - 23 - - - 38 75
(#1)/#5/#19  6 - 2 - - - - - 4 12
acro
- - - - 9 - 2 - - 11
non-acro - - - - 1 - 1 - 2
multiple markers
65 1 52 1 9 - - - 55 197
Summary  638 412 658 2 2538 2 120 6 567

4944

Chromosome
centric minutes  rings    inv dup / i / idic neocentric     markers IN SUMMARY 
"simple" complex "simple" complex "simple" complex clinical
tumor unspec.