HUM-MOLGEN archive: DIAG:

Note from the DIAGNOSTIC/CLINICAL RESEARCH editor: This DIAG message contains 3 submessages: 1) del(5)(q13.2q14.3) 2) IgD myelomas 3) Kartagener, ************************************************************************ HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************************ From: Colette Fakoya <FAKOYA@GEMINI.MCO.EDU> We are interested in knowing whether anyone has encountered patient(s) with an institial deletion of 5q13.2-q14.3 and has information about the natural history of the condition. The 11-year old boy we follow has mental retardation, microcephlay, spastic diplegia, and a seizure disorder. Can anyone suggest a link between functioning genes in this region and the phenotype this child shows? We would be interested in further study of this phenomenon or collaborating with others who have clinical and/or molecular information pertaining to del(5)(q13.3q14.3). Thaddeus W. Kurczynski, M.D., Ph.D. Clinical Geneticist Medical College of Ohio Colette Fakoya, MPH Genetics Outreach Coordinator Medical College of Ohio Joe Paparado, MD Medical College of Ohio Medical School Graduate ========================================== From: coico@SCISUN.SCI.CCNY.CUNY.EDU Subject: IgD Myelomas Studies with human immunoglobulin D (IgD) are underway to characterize IgD-specific receptors expressed by T lymphocytes. Given the paucity of IgD in normal serum, we must rely on IgD myeloma sources, which are also quite rare. We're seeking collabations with colleagues who have access to patients with IgD myelomas or who have frozen myeloma protein (unpurified or purified). Please contact Dr. Richard Coico, Chairman, Department of Microbiology and Immunology, CUNY Medical School, New York. E-mail: coico@sci.ccny.cuny.edu Richard Coico, Ph.D. Professor and Chairman Dept.of Micro. and Immunology CUNY Medical School Convent Ave. and 138th St. New York, NY 10031 Tel: 212.650.6628 Fax: 212.650.7797 ============================================================== From: William James Craigen <wcraigen@BCM.TMC.EDU> I am inquiring whether any families with Kartagener syndrome have been collected, or if anyone knows of their availability for a linkage study to a candidate region. Thanks, Bill Craigen William J. Craigen, M.D. Ph.D. S940, Department of Molecular and Human Genetics Baylor College of Medicine One Baylor Plaza Houston TX 77030 USA tele 713-798-8305 fax 713-798-5386 ================================================================