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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG:
From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>
Date: Mon, 8 May 1995 11:11:16 MET-DST

Note from the DIAGNOSTIC/CLINICAL RESEARCH editor:

This DIAG message contains 3 submessages:

1)  del(5)(q13.2q14.3)

2)  IgD myelomas

3)  Kartagener,




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                 HUM-MOLGEN  DIAGnostics/Clinical Research
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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

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