tl_files/tiny_templates/Bilder TL/sSMC-book.jpg

  tl_files/tiny_templates/Bilder TL/hetmorh-book.jpg

tl_files/tiny_templates/Bilder TL/Header-sSMC.jpg

 
  September 2017: Second course: Basics in human genetic diagnostics –
A course for CLGs* in education
*Clinical Laboratory Geneticists
 
  NOW ~6,000 cases / markers listed
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: 24.05.2017
 
  !ACTUAL PROJECT!  
     



How to cite this database:
Liehr T. 201
X. Small supernumerary marker chromosomes.
http://ssmc-tl.com/sSMC.html [accessed
XX/XX/XXXX]


 

install tracking codes in 2017

~3000 visitors per anno (since 2014)

 

VG-Wort (bc0e9794c01a456786cbeefcd0a83fc1)

reach the sisterpages tl_files/tiny_templates/Bilder TL/Header-mFISH.jpg

tl_files/tiny_templates/Bilder TL/Header-UPD.jpg

References


 

     
  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? What do sSMC do? First description of sSMC  
  eu- and heterochromatin mosaicism uniparental disomy  
  other names 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
  sSMC
McClintock
  sSMC
+21
46,X
+sSMC X
46,X
+sSMC Y
 
  FOR CLINICIANS AND CYTOGENETICISTS  
  Managing an 'sSMC-case'? FISH-probes for sSMC submit your case  
  Else Kröner-Fresenius-cellbank for small supernumerary marker chromosomes
in short: Else Kröner-Fresenius-sSMC-cellbank
 
 
DISCLAIMER
 

links helpful for diagnostics:

advertisement

 


Aims 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: Thomas.Liehr@med.uni-jena.de

 


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 or 16/46 sSMC could not be characterized by array-comparative genomic hybridization!! {176; 178}
  8. Also next generation sequencing is not really suited to characterice sSMC {178}
Further information on centromeres see Refs: {154-155}

 

References


Achievements

Here an up-to-date page is presented, 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)

 


Acknowledgments from patients and clinicians (anonymized)

 

From Greece (2016)

Thank you so much for responding to my mails!!! You already made me feel better!!!!!

From USA (2015)

I thought you might like to see a picture of my gorgeous little girl born 3 years ago. Looking at her now I can’t believe the mental state I was in during the pregnancy. You and your work made a big difference for her and our family.

From USA (2014)

It is not possible to stress how important your website/database was for me when I needed information. I think it is quite important that it is maintained. Thank you again for it.

From Spain (2014)

We can only be grateful to you and your team for the rapidity with which it has sent the report. 
Now we can not put into words the happiness we feel and how grateful we are to you. We are eternally grateful.

Our best wishes to you and good luck with your research and hard work.

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.


Actual Projects

 

FDNA project - Help Geneticists identify patients with small supernumerary marker chromosomes earlier

We are supporting a project in sSMC patients working with a company called FDNA (Facial dysmorphology novel analysis). In short the goal is that just by using a portrait photo of a patient to identify if he or she suffers e.g. from Pallister-Killian, or cat-eye syndrome. In case this sound interesting for you please download the correp. information here in English and here in German. Thanks!



Frequency of (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.

                         
    centric minute rings inv dup / i / idic neocentric markers    
  chr. simple complex simple complex simple complex clinical tumor unsepc. SUM  
  1 29 - 48 - 2 - 8 1 16 104  
  2 23 - 25 - 2 - 5 - 14 70  
  3 18 - 13 - 1 - 10 4 4 51  
  4 17 2 15 - 1 - 2 - 5 42  
  5 36 - 13 - 30 - 2 - 9 90  
  6 12 - 10 - 1 - 3 - 3 29  
  7 19 1 16 - 1 - 6 - 6 49  
  8 45 1 52 - 25 1 15 - 14 154  
  9 23 2 16 - 108 - 5 1 6 174  
  10 12 1 5 - 1 - 2 - 5 26  
  11 11 2 13 2 - - 2 - 8 38  
  12 18 3 16 - 606 - 6 - 3 653  
  13 5 4 3 - 7 1 26 - 3 49  
  14 36 11 11 - 104 1 2 - 21 186  
  15 63 19 28 1 1085 - 33 - 146 1389  
  16 39 - 27 - 2 - 3 - 22 93  
  17 33 1 9 - 2 - 1 - 3 49  
  18 25 3 14 - 317 - 2 - 22 388  
  19 35 1 29 - 1 - 1 - 9 76  
  20 22 - 19 - 6 - 2 - 11 62  
  21 29 3 8 - 14 - - - 6 60  
  22 43 414 15 - 391 - - - 31 892  
  X 18 - 21 - - - 2 - 3 42  
  X (in 46 chrs.) 40 - 130 - 1 - - - 31 202  
  Y 5 - 6 - 8 - 2 - 20 41  
  Y (in 46 chrs.) 16 - 65 - 337 - - - 4 462  
  no X/Y (in 46 chrs.) 1 - - - - - - - 3 4  
  13 or 21 17 12 4 - 86 1 - - 43 163  
  14 or 22 18 1 - - 28 - - - 39 86  
  (1)/5/19 7 - 2 - - - - - 4 13  
  acro - - - - 9 - 3 - - 12  
  non-acro - - - - 1 - 1 - - 2  
  multiple 70 1 52 1 9 - - - 68 215  
  SUMMARY 787 478 693 3 3203 4 144 6 627 5945  
  chr. simple complex simple complex simple complex clinical tumor unspec. SUM  
    centric minute rings inv dup / i / idic neocentric markers