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: 07.08.2017
	!ACTUAL PROJECT!

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

in 2017

~3000 visitors per anno (since 2014)

VG-Wort (bc0e9794c01a456786cbeefcd0a83fc1)

reach the sisterpages

References

DISCLAIMER

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:

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.