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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 6 messages  

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Subject: DIAG: 6 messages
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@anprisc.anapat.istitutotumori.mi.it>
Date: Mon, 15 Jun 1998 18:10:18 +0200
Posted-Date: Mon, 15 Jun 1998 18:10:18 +0200

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  6 professional requests:

1)      Bardet-Biedl syndrome 4
2)      Helix directory
3)      Marfan Syndrome
4)      Hajdu-Cheney syndrome
5)      Micropenis
6)      Ehlers-Danlos syndrome


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

1) Bardet-Biedl syndrome 4


We have recently cloned a new gene  and suspect that it could be responsible
for the Bardet-Biedl syndrome 4 (BBS4). Please, send any reagents (cells, DNA
samples etc) from BBS4 patients for mutational analysis on a collaborative

Many thanks,

Michael Lerman, M.D.,Ph.D.
Senior Investigator,NCI,DBS,LIB
FCRDC, Bldg.560, Rm.12-68.
Frederick, MD 21702
fax:              -6145.

2) Helix directory

Helix is a directory of clinical and research laboratories that are performing
testing for inherited diseases. Laboratory listings are by disease.  Helix is
sponsored by the NIH and is free to users and laboratories. We now have over
550 diseases listed for which testing is provided by more than 300
world wide. Over 5700 registered users make more than 300 inquiries per day.
While more than 90% of the inquiries of Helix come over the internet
(http://healthlinks.washington.edu/helix), about 8% of inquiries are made by
telephone (206-527-5742) or fax (206-527-5743).

Please let me know if you would like anymore information about Helix.

Roberta A. Pagon, M.D
Professor of Pediatrics
University of Washington School of Medicine

Division of Medical Genetics CH-25
Children's Hospital and Regional Medical Center
4800 Sand Point Way NE
PO Box 5371
Seattle WA 98105-0371
Tel. 206-526-2056
Fax  206-526-2217

Helix (http://healthlinks.washington.edu/helix)
155 NE 100th St. Suite 500
Seattle WA 98115
Tel. 206-527-5741
Fax  206-527-5743

Genline (http://healthlinks.washington.edu/genline)
9725 Third Avenue NE Suite 610
Seattle WA 98115
Tel. 206-221-4674
Fax  206-221-4679


3)      Marfan Syndrome

We have a family in which one of the two children has Marfan syndrome and the
mother is pregnant at second trimester. The diagnosis of Marfan Syndrome is
based on clinical findings rather then molecular analysis. We want to know if
there is any laboratory method for prenatal diagnosis of the syndrome and any
laboratory performs this method.

Hatice Ilgin, MD

Ankara University School of Medicine
Department of Medical Genetics
Sihhiye, 06100 Ankara-Turkey
Phone: +90 312 310 30 10 ext. 327
Fax: +90 312 310 08 05

e-mail: Hatice.Ilgin@pallas.dialup.ankara.edu.tr


4)      Hajdu-Cheney syndrome

We have a family with a diagnosis of Hajdu-Cheney syndrome in a grandmother
2 of the 3 grandchildren. Because such families are rare, this family may be
valuable for linkage analysis. We are seeking other families for further
studies. If anyone is currently performing linkage studies on this
syndrome, we
are ready to join the effort and send the DNAs of this family.

gert.matthijs@med.kuleuven.ac.be (Dr. Jean-Pierre Fryns/Dr. Gert Matthijs)


5)  Micropenis

Has anyone the experience of genetic counseling of ultrasonographic diagnosis
of isolated micropenis (3 different examiners) at 22 weeks pregnancy? Fetal
karyotype was 46 XY The couple had no family history and was healthy. They
reported that their first daugther was born with "small" labia majoris but
decided not to bring her for examination.

Your experience or advice would be of great help.

Annick Raas-Rothschild MD
Genetic Clinic,
Hadassah University hospital
Jerusalem, Israel


6)      Ehlers-Danlos syndrome

We are looking for any information about prenatal diagnosis of Ehlers-Danlos
syndrome type IV.

Halil Gurhan Karabulut, MD
Ankara University School of Medicine
Department of Medical Biology
Sihhiye, 06100 Ankara-Turkey
Phone:+90 312 310 30 10 ext. 327
Fax: +90 312 310 08 05

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