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  Carlo Gambacorti: DIAG: 6 messages (1 PT REQ.)  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 6 messages (1 PT REQ.)
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Fri, 12 Jul 1996 10:41:42 +0000

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 6 submessage(s):

1)   amnio report of 46,XY,inv(7)(q21.?2q22.?3)

2)   Muscle biopsy transportation

3)   Nail-Patella Syndrome

4)   mutations in the dystrophin gene

5)   translocation 12;4/amniocentesis/ *PT. REQ.*

6)   Hereditary angioneurotic oedema

  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics network
  Diagnostics/Clinical Research Section


A friend just got an amnio report of 46,XY,inv(7)(q21.?2q22.?3). Their genetic
counselor (accurately) told them the fetus could have Ehlers-Danlos or
osteogenesis imperfecta. Level II U/S was normal. Is anyone working with DNA
probes to the relevant collagen gene who might be able to offer these nice
people a more definitive diagnosis?  Also, is it possible to determine actual
risks of these disorders when we find out if either parent also has the
inversion? MOM lists a similar case where the woman had the inversion too, yet
the child still had oi. Thanks. I'm a genetic counselor and textbook author.
Ricki Lewis <76715.3517@COMPUSERVE.COM>


  We are looking for a proper way to transport muscle biopsies from
a distance about 12 hours. Some says liquid nitrogen is very suitable to
keep the biopsies okay, but this is not possible in our case, if anyone
knows another way, please just write down.

Best wishes

Sevtap Savas
Bogazici University
Department of Molecular Biology and Genetics
P.K.2  Bebek/ Istanbul  Turkiye

Tel: 90 212 263 15 00/1877
Fax: 90 212 265 97 78
E-mail: savasse@boun.edu.tr


We have recently narrowed the candidate interval for the NPS gene but
need more families to reduce it to a manageable size. If you know of any
NPS families suitable for linkage studies, please let me know.
In addition, we would like to have access to persons who appear to be
the result of new mutations (and their parents, if possible).
We have IRB approval for obtaining blood samples for genetic studies.
Please reply directly to: imcintos@welchlink.welch.jhu.edu
Thanks for your help,

Iain McIntosh
Iain McIntosh, PhD.
Center for Medical Genetics
Johns Hopkins University School of Medicine
600 North Wolfe Street / Blalock 1012G
Baltimore, MD 21287-4922
phone   410-955 7948
fax     410-614 2522

                My name is Henry Chromow.  I am a student working in the Sudol lab at
 The Mt. Sinai School of Medicine.  Our lab has identified a signaling
 module in the human dystrophin protein- it is called WW-Domain.  It is
 composed of 38 amino acids forming a three-dimensional structure that
 interacts specifically with the poly-proline region of the
 beta-dystroglycan receptor.  One of my aims is to identify deletions
 and point-mutations that map the WW-Domain dystrophin.  More
precisely, any mutation that is localized in the gene, corresponding to the
amino acid sequence of dystrophin in the position of 3000-3300 amino
acid (according to Kunkel et al.) is of interest to us.  We would
appreciate your help if you could direct us to appropriate sources or
 if you could help us locate unpublished information on point
mutations in the dystrophin.

                                                        Sincere thanks,
                                                             Henry Chromow

E-Mail address: Eekius@aol.com
Fax Number: (212) 426-1483


I know of someone who had an amniocentesis, and the karyotyping
came up with a translocation of chromasome 12 to chromasome 4.  Does
anyone know what this indicates, and should they consider termination?
I would appreciate an answer as soon as possible.

Apparent patient location: US


We have ascertained a large family with classical autosomal dominant
hereditary angioneurotic oedema. The affected members have been well
characterised at a clinical and immunological level.

Is anyone interested in receiving a DNA sample from an affected family
member for mutation studies in the C1NH gene?

Yours sincerely,

Graeme Suthers.
Dr Graeme Suthers
SA Clinical Genetics Service
Centre for Medical Genetics
Women's & Children's Hospital
North Adelaide SA 5006

tel  (08) 204 7375 (International prefix -61-8-)
fax  (08) 204 6088 (International prefix -61-8-)
email      suthersg@wch.sa.gov.au (Using MSmail)


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