Re: question reguarding genetic testing and pmg

[Guest guest]

Hi ,

Sorry to make you wait! I know how hard it is to wait. In intended on writing,

but 4/5 of us in our family had a stomach flu yesterday. Thankfully, it was

short-lived.

Anyway, here's the info on the call for subjects (from

http://www.chromodisorder.org/CDO/Resources/LatestResearch.aspx under October

2009):

**************************************

Research on Chromosome Abnormalities, Brain Malformations and Cognitive

Development

The Walsh Laboratory at the Children's Hospital Boston and Beth Israel Deaconess

Medical Center is looking for genes involved in brain development. We are

currently enrolling individuals with known chromosome abnormalities seen on

chromosome microarray testing and/or karyotype who also have brain

malformations, such as polymicrogyria, lissencephaly, –Warburg syndrome,

heterotopias, and cerebellar hypoplasia, and inherited disorders of cognition,

such as familial mental retardation and familial autism. Adults and children

with these conditions, and their family members, are invited to participate in

our study. Examples of chromosome regions currently under study include: 1q32,

1q42–44, 5p15, 6q21, 6q25, 6p25–6q27, 15q11–13, Xp22 as well as balanced and

unbalanced chromosome translocations and inversions.

Details we request to receive include copies of MRI images and medical records,

particularly the results of previous genetic testing. Participation in our

research involves providing a DNA sample, usually by giving a small amount of

blood, as well as sharing information about medical and family history. We

request DNA samples from affected individuals as well as their parents and

healthy siblings, when possible. Reading and signing a research consent form is

required before enrollment.

For more information or if you are interested in participating, please contact

Barry, research coordinator, at . She may also be reached at

walshlresearch@... or at 300 Longwood Avenue, CHB, Bldg CLS

15070-Walsh Laboratory, Boston, MA 02115.

For more information on the Walsh Lab please visit: http://walshlab.org

**************************************

Once you get the official diagnosis, check out CDO

(http://www.chromodisorder.org/CDO/) to connect with other families dealing with

the same diagnosis. CDO is based in the US. (CDO is also putting together

brochures for each of the chromosomes and common abnormalities, but they're not

published yet.)

Unique (http://www.rarechromo.org/html/home.asp), which is based in Great

Britain, has some wonderful brochures/leaflets

(http://www.rarechromo.org/forum/DisordersLeaflets.asp) that they've put

together on rare chromosomal disorders. Hopefully, they have one for you!

I hope some of this info helps!

Take care,

> > >

> > > Those that have had genetic testing did anything come back saying that

their was something wrong with x chromosome?? i don't know if its all of them

or one specific but so far the only info i have got is that their is an extra

stick or something on her x chromo and the geneticst is looking into it.. i

think its just one...

> > >

> >

>