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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 4 messages  

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Subject: DIAG: 4 messages
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@istitutotumori.mi.it>
Date: Fri, 7 Jan 2000 11:28:18 +0100

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 4  professional requests:

1)      Tay-Sachs
2)      Pseudo-Treacher Collins syndrome
3)      Autosomal Dominant Coloboma/Microphthalmia
4)      Autosomal-Dominant Idiopathic Fanconi's anemia.


Carlo Gambacorti, MD, Editor,            Harker Rhodes, MD, Assistant Editor
                       Human Molecular Genetics Network
                       Diagnostics/Clinical Research Section
1)      Tay-Sachs

We are investigating the extent of linkage-disequilibrium around the TS
locus in the Ashkenazi Jewish population and need DNA from affected
individuals homozygous for the 1278+TATC mutation.  Anyone willing to
provide anonymous DNA or cells from such cases please contact me at:

 Robert D. Burk, M.D.
Ullmann Rm. 515
Albert Einstein College of Medicine
1300 Morris Park Ave.
Bronx, NY 10461
Direct Tel: 718 430-3720
FAX: 718 430-8975
Lab 718 430-3744


2)      Pseudo-Treacher Collins syndrome

We have recently seen a family in which the combination of apparent
branchial arch anomalies and minor digital defects is inherited as an
autosomal dominant trait.  They had been diagnosed as having Treacher
Collins syndrome, but that clearly is not the correct diagnosis.  They are
very motivated to have someone try to identify the gene.  There are at least
6 affected individuals in three generations.
Please contact:
Helga Toriello, Ph.D.
Genetics Services
21 Michigan St.
Suite 465
Grand Rapids, MI  49503

phone: 616-391-2701
fax: 616-391-3114
Email: helga.toriello@spectrum-health.org

3)      Autosomal Dominant Coloboma/Microphthalmia

We are about to start linkage analysis on a large family with
coloboma and microphthalmia segregating as an autosomal dominant
disease.   We would be very interested in including other
well-characterised families in the panel.  Please contact

David FitzPatrick MD/Veronica van Heyningen PhD
Molecular Medicine Centre/MRC Human Genetics Unit
Western General Hospital
Edinburgh EH4 2XU
Tel(Fax) 0131 651 1012(3)

email: david.fitzpatrick@ed.ac.uk


4)      Autosomal-Dominant Idiopathic Fanconi's anemia.

I would like to know if there are researchers interested in studying this
family of 4 generations 10 affected for molecular gene determination.

Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.
Tolaymat A, Sakarcan A, Neiberger R
University of Florida Health Science Center, Pediatrics Department,
Jacksonville 32209.
J Am Soc Nephrol 1992 Feb;2(8):1310-7 PMID: 1627757, UI: 92329697

They have not had complementation studies.
Please, see the article for details.
Thank you.

Tony Perszyk

Anthony Perszyk MD
Division of Medical Genetics
Nemours Children's Clinic
807 Nira Street
Jacksonville, Florida 32207-8426

TEL#  1-904-390-3726
FAX#  1-904-390-3422
aperszyk@nemours.org <mailto:Aperszyk@nemours.org>


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