HUM-MOLGEN archive: DIAG: 6 messages

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 6 professional requests: 1) Bardet-Biedl syndrome 4 2) Helix directory 3) Marfan Syndrome 4) Hajdu-Cheney syndrome 5) Micropenis 6) Ehlers-Danlos syndrome REPLIES TO THESE MESSAGES SHOULD BE SENT TO THE PERSON MAKING THE REQUEST AND NOT TO HUM-MOLGEN. Carlo Gambacorti, MD, Editor, Harker Rhodes, MD, Assistant Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ***************************************************************************** ***************************************************************************** 1) Bardet-Biedl syndrome 4 Editors note: NO IRB APPROVAL PROVIDED We have recently cloned a new gene and suspect that it could be responsible for the Bardet-Biedl syndrome 4 (BBS4). Please, send any reagents (cells, DNA samples etc) from BBS4 patients for mutational analysis on a collaborative basis. Many thanks, Michael Lerman, M.D.,Ph.D. Senior Investigator,NCI,DBS,LIB FCRDC, Bldg.560, Rm.12-68. Frederick, MD 21702 USA. tel:301-846-1288 fax: -6145. ********** 2) Helix directory Helix is a directory of clinical and research laboratories that are performing testing for inherited diseases. Laboratory listings are by disease. Helix is sponsored by the NIH and is free to users and laboratories. We now have over 550 diseases listed for which testing is provided by more than 300 laboratories world wide. Over 5700 registered users make more than 300 inquiries per day. While more than 90% of the inquiries of Helix come over the internet (http://healthlinks.washington.edu/helix), about 8% of inquiries are made by telephone (206-527-5742) or fax (206-527-5743). Please let me know if you would like anymore information about Helix. Roberta A. Pagon, M.D Professor of Pediatrics University of Washington School of Medicine Division of Medical Genetics CH-25 Children's Hospital and Regional Medical Center 4800 Sand Point Way NE PO Box 5371 Seattle WA 98105-0371 Tel. 206-526-2056 Fax 206-526-2217 Helix (http://healthlinks.washington.edu/helix) 155 NE 100th St. Suite 500 Seattle WA 98115 Tel. 206-527-5741 Fax 206-527-5743 Genline (http://healthlinks.washington.edu/genline) 9725 Third Avenue NE Suite 610 Seattle WA 98115 Tel. 206-221-4674 Fax 206-221-4679 **************** 3) Marfan Syndrome We have a family in which one of the two children has Marfan syndrome and the mother is pregnant at second trimester. The diagnosis of Marfan Syndrome is based on clinical findings rather then molecular analysis. We want to know if there is any laboratory method for prenatal diagnosis of the syndrome and any laboratory performs this method. Hatice Ilgin, MD Ankara University School of Medicine Department of Medical Genetics Sihhiye, 06100 Ankara-Turkey Phone: +90 312 310 30 10 ext. 327 Fax: +90 312 310 08 05 e-mail: Hatice.Ilgin@pallas.dialup.ankara.edu.tr ********** 4) Hajdu-Cheney syndrome We have a family with a diagnosis of Hajdu-Cheney syndrome in a grandmother and 2 of the 3 grandchildren. Because such families are rare, this family may be valuable for linkage analysis. We are seeking other families for further studies. If anyone is currently performing linkage studies on this syndrome, we are ready to join the effort and send the DNAs of this family. gert.matthijs@med.kuleuven.ac.be (Dr. Jean-Pierre Fryns/Dr. Gert Matthijs) ********** 5) Micropenis Has anyone the experience of genetic counseling of ultrasonographic diagnosis of isolated micropenis (3 different examiners) at 22 weeks pregnancy? Fetal karyotype was 46 XY The couple had no family history and was healthy. They reported that their first daugther was born with "small" labia majoris but they decided not to bring her for examination. Your experience or advice would be of great help. Annick Raas-Rothschild MD Genetic Clinic, Hadassah University hospital Jerusalem, Israel Annick@hadassah.org.il ********** 6) Ehlers-Danlos syndrome We are looking for any information about prenatal diagnosis of Ehlers-Danlos syndrome type IV. Halil Gurhan Karabulut, MD Ankara University School of Medicine Department of Medical Biology Sihhiye, 06100 Ankara-Turkey Phone:+90 312 310 30 10 ext. 327 Fax: +90 312 310 08 05 ************************************************************************ HUM-MOLGEN - Internet Communication Forumin Human Genetics E-mail: HUM-MOLGEN@nic.surfnet.nl WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-5664598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) ---------------------------------------------------------------------------- --------------- >"copyright HUM-MOLGEN"