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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 9 messages/ 1 Pt. Req.  

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Subject: DIAG: 9 messages/ 1 Pt. Req.
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@anprisc.anapat.istitutotumori.mi.it>
Date: Wed, 16 Sep 1998 16:50:17 +0200
Posted-Date: Wed, 16 Sep 1998 16:50:17 +0200

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  8 professional requests and 1 patient request:

1) Seckel syndrome
2) Stickler Syndrome	
3) Friedreichs Ataxia  Patient request 
4) Familial deafness
5) Familial lipomatosis
6) Arginase deficiency
7) 46XY der(2) Add(2)(p21)
8) Request for families with hereditary glomus tumors
9) Miyshi-type muscular dystrophy


Carlo Gambacorti, MD, Editor,            Harker Rhodes, MD, Assistant Editor
                       Human Molecular Genetics Network
                       Diagnostics/Clinical Research Section

1)      Seckel syndrome

Our lab is involved in the study of Fanconi anemia, a rare chromosomal
instability disorder with hypersensitivity to crosslinking agents. We have
used somatic cell hybridization to demonstrate the existence of 8
complementation groups, each of which is thought to be connected to a
distinct FA disease gene. Two of these have now been cloned by
complementation cloning, and a third is underway.  

Seckel syndrome is a rare disease, also characterized by hypersensitivity
to crosslinking agents. We are interested in obtaining EBV-immortalized
lymphoblasts from Seckel syndrome patients to be used for cloning the
disease gene by complementation cloning.  If you have such lymphoblasts in
your collection and if you are interested in a collaboration on cloning the
Seckel syndrome gene, please get in touch.

Dr. H. Joenje
Department of Human Genetics
Free University
Van der Boechorststraat 7
NL-1081 BT Amsterdam
The Netherlands
Tel +31-20-4448270
Fax +31-20-4448285
e-mail H.Joenje.HumGen@med.vu.nl


2)      Stickler Syndrome

I work in Brazil in a public university at Bauru city, Sao Paulo state. My
area of study is medical genetics. Recently, I had examined patients with
the Stickler Syndrome. We have here a hospital specialized in treatment of
clefting, and there are many patients with this syndrome. I would like to
know something about your experience with this syndrome. Please contact me
by E-mail.

 Elaine Sbroggio de Oliveira Rodini <elaine@bauru.unesp.br>


3)      Friedreichs Ataxia
Patient request  Please reply to HUM-MOLGEN
Apparent patient location: Germany

I have Friedreichs Ataxia and in the early 1980s underwent treatment by
Prof Schmidt at a Kinderklinik in Germany - somewhere around Bonn I think.

I am trying to gather up-to-date info on my disability and would like to
know if there is further treatment available.

Also, can I get in touch with Prof Schmidt or his team of doctors?

I hope you can help me.



4)      Familial deafness

I am a senior clinical geneticist at the National Center of    Medical
Genetics of Cuba, and I am doing research on genetic    deafness.  I have
been studying a number of families with  neurosensorial deafness (syndromic
and nonsyndromic). As we do not    have here the capacity for gene mapping,
we are looking for collaboration with a center interested in studying the
molecular genetics of deafness.

  Dra Estela Morales Peralta, MD
  PO Box 5092, Habana 5,
  CP 10500, Ciudad de la Habana, CUBA
  e-mail: fornaris@infomed.sld.cu


5)      Familial lipomatosis

We are investigating families with multiple lipomatosis. In a search for
additional families we would like to invite anyone who is interested in

    Thank you.

    Dietmar Lohmann
    Universitaetsklinikum Essen
    Hufelandstrasse 55
    D-45122 Essen, Germany
    Phon +49(201)7234562
    FAX +49(201)7235900 


6) Arginase deficiency

Is anybody interested in doing mutational study for Arginase deficiency ? I
have a family with three affected child (two have passed away)

Thank you

Dr Rowani Mohd Rawi
School of Medical Sciences
Universiti Sains Malaysia
Kubang Kerian 16150 
Kelantan, MALAYSIA

Phone: 609 7651711 ext. 2213 / 2195 / 2141
Pager: 419 
Fax: 609 7653370
email: rowani@tm.net.my / rowani@kb.usm.my / rowani@emailx.com


7)      46XY der(2) Add(2)(p21)

Has anobody had any experience with patient with 46XY der(2) Add(2)(p21).

The patient is actually under the care of a friend of mine.

He is two months old, boy and is the first child of an unconsanguineous
couple. He was delivered at 37 weeks of gestation with birth weight of only
2.45kg. Clinically the child appears dysmorphic with micropthalmia,
microcephalus, low hair line, low set ears. The nipples are widely spaced
and he has right undescended testes. There is also fixed flexion deformities
of the fingers. He also has a small muscular VSD and ASD secundum.The boy
was admitted since birth for a total of 3 weeks for feeding difficulty. He
was subsequently discharge well but readmitted 1 week later for

Dr Rowani Mohd Rawi
School of Medical Sciences
Universiti Sains Malaysia
Kubang Kerian 16150
Kelantan, MALAYSIA

Phone: 609 7651711 ext. 2213 / 2195 / 2141
Pager: 419
Fax: 609 7653370
email: rowani@tm.net.my / rowani@kb.usm.my / rowani@emailx.com


8)      Request for families with hereditary glomus tumors

 We have established a potential genetic linkage for a family with autosomal
dominant glomus tumors (OMIM 138000).  These are the cutaneous neoplasms
consisting of multiple layers of glomus cells lining blood filled cavities,
be to confused with paragangliomata, which are sometimes also called glomus
tumors.   The study is approved by the Human Subjects committee of the Duke
University Medical Center.  If anyone knows of any multiple generation
that would be interested in a genetic linkage study,  please contact...

Douglas Marchuk, Ph.D.
Department of Genetics
Room 277 CARL Building
Duke University Medical Center
Durham, NC 27710


9)      Miyshi-type muscular dystrophy

We are looking for a place to send blood/tissue samples of a young person
with a distal myopathy susspected to be a miyshi-type muscular dystrophy.
as well we seek for collaboration in the molecular genetics diagnosis of
fascio scapulo humeral muscular dystrophy. 

With regards 

Gaby Vainstein.
Vainstein Meir Medical Center, Israel <gaby@medscape.com

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