HUM-MOLGEN archive: DIAG (5 messages with 2 Patient Requests)

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 (http://www.informatik.uni-rostock.de/HUM-MOLGEN/). ________________________________________________________________________ (1) Subject: mucopolysaccharidosis I-S & VI REPLY DIRECTLY TO HUM-MOLGEN 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? ----------------------------------------------------------------------------- (2) 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 gmp.mrc.ac.uk ------------------------------------------------------------ (3) 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. Royal Oak, MICHIGAN, USA (810) 551-5077-phone (810) 551-3694 (fax) dfarkas@beaumont.edu ---------------------------------------------------------------------------- (4) Date: Wed, 11 Dec 1996 22:26:08 +0100 Subject: paroxysmal kinesogenic dystonia REPLY TO HUM-MOLGEN 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. ------------------------------------------------------------------------------ (5) 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