Chromosome 22

[Guest guest]

In a message dated 12/3/99 7:50:51 PM Eastern Standard Time,

rhbailey@... writes:

<< And do you remember that Carol said that Cheney thinks that a defective

gene 22q11.2 might be a marker for CFIDS? >>

Sue, from what we've been finding out, it's one and the same and has a LOT to

do with CFS. Our winter edition will have what we think, from a lot of

sluething and medical data, is the cause and it involves this gene

big-time....or the dysfunction of the gene.

[Guest guest]

Appears this theory/thinking is much larger than just Cheney and CFS.....

http://www.rideforlife.com/n_genome102399.htm

[Guest guest]

Hi all

A question was asked about what the significance of testing

chromosome 22 was. I understand Tino has had a test and my daughter,

Kirsten was tested at birth before we knew the diagnosis of BPES.

It has been really interesting looking this up and I found useful

info at eMedicine - Digeorge Syndrome and www.vcfs.net.

To start with it has nothing to do with BPES.

An abnormality on chromosome 22 results in Di Syndrome or

Velo-Cardio-Facial Syndrome. It is the 2nd most common cause of

cardiac abnormalities in babies, the first/ most common cause being

Down Syndrome. These kids also have some facial differences which

may be subtle, including wide set eyes and small eyes. I haven't

found a picture yet. They may also have a cleft palate or speech

difficulties because of palate problems. They may have feeding

problems.

There are in fact a whole load of other things that may or may not

be present.

The prevalence may in fact be 1:4000, so to do a test on chromosome

22 may not be a strange request if a chromosomal abnormality is

suspected. Interesting stuff.

Regards

Parsons