Thursday, November 08, 2007

Conference Report: Monosomy 1p36

Dr. Shaffer's second lecture at the conference was titled simply, Monosomy 1p36.  She spoke for over and hour and I typed as fast as I could.  Here is what I was able to put down:

FISH probes can find out if the ends of the chromosome is in place over two or three years.  MicroArray testing can do the same work in two to three days.

About 50% of 1p36 deletions are missed in cytogenetic analyses.  MicroArray testing needs to get out into clinical testing, not just in research labs anymore.

Interstitial deletions aren’t really rare.  They just get missed by the FISH tests.  They are showing to be more frequent in MicroArray testing.

Efforts are being made to map the genes in the 1p36 area by looking at deletion specifics and the symptoms the patients present.

The body may have chromosomal repair mechanisms that place pieces at the end, sometimes these are the wrong pieces.  This results in telomere rearrangement.

Monosomy 1p36 Research Project

141 families enrolled in the study

Began at Baylor in 1994


Map deletions

uncover complex arrangements

4 to 5 million base pairs is the average size of deletions.  Egg deletions are usually smaller and sperm deletions are usually larger.  The check mechanism is less stringent in sperm production than in egg production.  This is still being studied

There seems to be a particular genetic sequence that  is more prone to breaking.  Called translin

Genes interact with each other in complex ways so symptoms are not cut and dried and in terms of what symptoms are linked to what deletion.

Clincal symptoms

100% have mental retardation and 

97%  late closing fontanels

3% early closing fontanels

82% Hearing loss - Improving hearing over time

60% Growth Retardation

48% Epilepsy

43% Congenital Heart Defects

17% Cleft abnormalities

78% Hypotonia

64% Speech delays

64% Seizures

42% Feeding Difficulties

~40% Poor swallowing function

Data on hearing loss is confusing because different types are diagnosed and hearing seems to improve with time.

Gastrointestinal issues - haven’t been studied a lot but constipation and other issues do appear to be linked.

The study is getting close to determining which genes control cardiomyopathy.  If a child has this they are encouraged to enroll in the study to provide more data to help get an answer.

There appear to be two regions that affect seizures.  One region has a link to limited seizures that go away.  Another region is linked to chronic seizures.

There are also two regions associated with hearing loss.

There is not a direct correlation between deletion size and clinical features.  Most of the active genes are near the end and many interact with other chromosomes

Epigenetics - the study of other effects that contribute to expressing of certain genes. Such as DNA folding - the way the DNA folds up into chromosomes

Gene therapy currently only works well at putting information back into a certain organ that is missing information to make a certain enzyme.

It is unknown whether speech delay is a result of the mental delays or a direct result of a missing genetic material.

Dr. Shaffer mentioned that she would make her slides available to the group later on, so when I track those down I'll post them here as well.  

Coming up:  A few insights from the other speakers, pictures of the conference and some fun personal experiences meeting other families.


Unknown said...

Hi Nate
Thanks for diligently taking notes from the conference. I hope you don't mind but I want to forward your site to some family members to help them understand better. It was great to meet you, Melanie, your little clone, Whitney and baby Liam. Already looking forward to next year!!

Denise (Emily's mom)

Kajsa Farnsworth said...

Hi Nate,
Your notes are very helpful, especially since we were unable to attend the conference. Did Dr. Schaffer mention whether or not they are accepting additional families for the study? Brady does not have cardiomyopathy but he does have an interstitial deletion. I suppose I should just send an email to her staff and find out! I don't know if I mentioned this before but we lived in SLC until we moved to Phoenix a year ago. Reading back through your older posts I realize we have even worked with the same geneticist (Dr. Lewin). It's a small world!

Nate said...

Hi Denise,

Happy to help out. Feel free to share the site with anyone who'd be interested. We're looking forward to getting together again soon too.

Thanks for reading!

Nate said...

Hi kajsa,

That's cool our kids have been to the same geneticist before. We're learning we're not near as isolated as we once felt. Now we've got a big happy 1p36 family.

By the way, Whitney isn't in Dr. Shaffer's study yet either. She suggested we just email her and we can make further arrangements because they're still encouraging people to participate. I'm sure you'd be welcome to join as well.

Take care!

Angie said...

Hello Hanson family! Thanks for taking such great notes. I tried writing some stuff down, but obviously typing was the way to go. I plan to pass on your site to my family as well so they also get a better understanding. Take care and can't wait for next year!
Angie & The DeKeyrel Family

Candle Ends said...


What criteria is Dr. Shaffer looking at for possible participants in her study?

Or probably the better question is how do I email her to ask her staff this question?


Nate said...

Hi Josh,

The only criteria to be in Dr. Shaffer's study is that the patient have a 1p36 deletion. I'm sure she and her staff will be happy to answer any questions you have. Drop me an email at nate (dot) hanson (at) gmail (dot) com and I'll be happy to forward her contact info.


daniela said...

Thank you Nate. Your site allowed me to make up some information I didn't get due to my poor knowledge of American language.
A great hug from Italy
Daniela (mom to Andrea 20yo 1p36)

Jagger said...

Hi Everyone,

My wife and I just had a little baby boy who is nine days old today. We were told that he has Monosomy 1p36 and was woundering if anyone has any helpful information on this disorder so we can learn more about it.

Thanks Jaggers parents Jamie and Sharlee

Nate said...

Hi Jamie and Sharlee,

I'm glad you found this site. You've probably got all kinds of questions after Jagger's diagnosis. To learn more I would recommend joining our support group. The members there have been so helpful and kind. You can find information on joining here:

Talk to you soon!