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  Robert Resta: DIAG (5 messages with 2 Patient Requests)  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG (5 messages with 2 Patient Requests)
From: Robert Resta <bc928@scn.org>
Date: Thu, 19 Dec 1996 07:14:32 -0800

The following messages have been submitted to the DIAG Section of
HUM-MOLGEN. Replies to Patient Requests should be sent directly to
HUM-MOLGEN. All other replies can be sent to the originators of the
messages. These messages are also posted at our Website


Subject: mucopolysaccharidosis I-S & VI
Apparent Patient Location: United States

I am a carrier of MPS I-S and MPS VI. I am of English background and
unrelated to one another. What is the incidence of carriers of MPS I-S and
MPS VI in the United States? What is the carrier frequency in someone of
Hungarian, European and English background? How early can prenatal testing
be done? My daughter has a 66% of also being a carrier. I have reviewed
OMIM, but I have yet to find real statistics.

Can anyone provide me with answers to some or all of my questions?
Date: Fri Dec  6 04:04:42 1996
Subject:      DIAG/CALL:OFD1
Reply-To: sfeather@hgmp.mrc.ac.uk (dr sally feather)

IRB Approved Research

oral-facial-digital syndrome type 1 (OMIM 311200): Our group is studying ofd1.
We are keen to hear of further families and patients who would be willing to
provide blood samples to assist in our project to find the gene for the
oral-facial-digital syndrome type1.

please contact: Dr Sally Feather,
Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London
WC1 1EH, UK. Tel:0171 242 9789 ext 2222. Fax: 0171 404 6191. email: sfeather@h

Subject: Trisomy 18, trisomy 13
Reply-To: dfarkas@beaumont.edu

Last week, a child was born and lived for about an hour.  There were
several, severe anomalies but no diagnosis was made.  Before the
autopsy, liver and spleen specimens were sent to my lab for DNA
Extraction and Banking (at the request and with permission of the
parents).  The liver DNA was badly degraded but the spleen
DNA is excellent and we have over 600 micrograms of it.  Cytogenetics
was also requested but no cells grew.  The attending suspects Trisomy 18
or 13 and would like to have a diagnosis in this case.  Now that
cytogenetics is not possible, does anyone out there know of a lab that
can do trisomy analysis on a DNA specimen?  Seems like it would take
some pretty finely tuned quantitation with chromosome specific probes,
perhaps by Southern blotting with an internal control.  Anyone's help
would be greatly appreciated.  Thanks.

Happy Holidays,

Dan Farkas, PhD
Co-director, Molecular Probe Lab
Wm. Beaumont Hosp.
(810) 551-5077-phone
(810) 551-3694 (fax)
Date:         Wed, 11 Dec 1996 22:26:08 +0100
Subject:      paroxysmal kinesogenic dystonia
Apparent Patient Location: USA

In August, 1996, my daughter was diagnosed with paroxysmal kinesogenic
dystonia affecting her legs. She was 10 months old at the time. I am
looking for any information concerning this specific type of dystonia. The
doctors my wife and I have worked with have not provided much information
because they say that there isn't much available for this type. I would
appreciate any information that can be sent to me. Thank you.
From: Maria Elena Garcia Diaz <garcia@ciens.ula.ve>
Subject: Pericardiac Post-surgery Syndrome

     I would like to have some information about diagnosis of pericardic
postsurgery syndrome. I have been told that the best way is through
detection of anti-heart antibodies. Those are expensive and not so easy to
get. Also, detection of some viruses, like megalovirus, could be related
to this reaction. This research is IRB approved and is being done for a
graduate student's thesis.

       thanks a lot
              Maria Elena Garcia
            Universidad de los Andes
           Centro de Ingenieria Genetica CIGEN

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