home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
  HUM-MOLGEN -> mail archive   |   Search register for news alert (free)  
  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 5 messages/3 PT. REQ.  

archive of HUM-MOLGEN mails


[Author Prev][Author Next][Thread Prev][Thread Next][Author Index][Topic Index]

Subject: DIAG: 5 messages/3 PT. REQ.
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@anprisc.anapat.istitutotumori.mi.it>
Date: Sat, 29 Aug 1998 12:59:03 +0200
Posted-Date: Sat, 29 Aug 1998 12:59:03 +0200

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  2 professional requests and 3 patient requests:

1)      Cyclic neutropenia - PATIENT REQUEST
2)      Chromosome 5 mosaic - PATIENT REQUEST
3)      Partial transcobalmin I deficiency
4)      inv(5)(p13.1q13.1) - PATIENT REQUEST
5)      Duplication of Xq23-26


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

1)  Cyclic neutropenia
Apparent patient location: USA
Patient request - Please respond to HUM-MOLGEN

My son ( 11 weeks old) was recently diagnosed with cyclic neutropenia. I would
like to get in touch with people doing research in this area. This disease
appear to be autosomal dominant. My husband and I would like to get tested (we
might have a milder form of it) but without our insurance company knowing. So
far the only test I know for CN is serial CBCs. Has somebody mapped the gene?
Is It G-CSF receptor???. What about long term therapy with Filgrastim? Is
a registry for CN?.

Thank you, for the help


2)      Chromosome 5 mosaic
Apparent patient location: USA
Patient request - Please respond to HUM-MOLGEN

My son had a chromosome test done and it came back
46,xy,inv(5)(p13.1q13.1)(84/100) 46,xy,(16/100).

The doctors said this is not seen very often in the general public. They could
not give me any syndrome or effect that this would have on him. He has been in
special education since he was 3 years old. He will be 9 years old in October.
He is speech delayed, cognitive abilities are delayed. His dad and I were also
tested and came back normal. He was a full term baby but he only weighed 5lbs.
He had very little fat on him. He had a hard time keeping his body temp up.

When I was about 6 months pregnant they found I had a calcified placenta.
Nothing extra was done as far as more vitamins or anything that the baby might
not be getting because of this. At three weeks old he had to have surgery for
pyloric stenosis. He never really gained weight where he should have been. At
seven years old he went from being on the charts three lines from the bottom,
to being in the 90th percentile. I would like to hear from anyone has a child
or knows someone who has a child with this chromosome abnormality. He can't be
the only one with this.

Thank you for any help anyone can give me.


3)  Partial transcobalmin I deficiency

I am treating a 40 y male with Vit.B12 deficiency and sensory neuropathy in
whom partial transcobalmin I deficiency was documented. His  father was
followed in our clinic for mental decline and found to have B12 deficiency but
transcobalamin was not studied at that time . There are several family members
who have been diagnosed years ago as B12 deficiency. Available and informative
family members will be studied soon. Our concern is the question of
treatment .
Lacking transcobalamin will prevent Vit. B12 from entering tissues . How
can we
overcome this by pareneteral Vit B12 only?

gadoth@post.tau.ac.il (N. Gadoth MD)


4)  inv(5)(p13.1q13.1)
Patient request - Please respond to HUM-MOLGEN

Wondering if anyone out there has come across the karyotype: 46,
xy,inv(5)(p13.1q13.1) (84/100)  de novo. What is the outcome be with this
abnormality? My son has this and is globally delayed and had  intrauterine
growth retardation.

Thanks for any help.


5)      Duplication of Xq23-26

I have a 9 month old female patient with a duplication of  Xq23-26.  She is
developmentally delayed, FTT (Failure to Thrive),has genitalia abnormalities,
ptosis of the eyes and a few other underlying metabolic conditions which they
are trying to determine.  As a nurse, I am trying to find out  what her
prognosis might be.

Thank you for your assistance in this matter.

Anne Boughton, RN, BSN, Medical University of South Carolina
email: Nurse70152@AOL.com

HUM-MOLGEN - Internet Communication Forumin Human Genetics E-mail:
HUM-MOLGEN@nic.surfnet.nl WWW:
http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-5664598 (The
Netherlands), (206) 386-2101 (USA) Fax:  020-691 6521 (The Netherlands),
(206) 386-2555 (USA)
--------------- >"copyright HUM-MOLGEN"

home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap

Mail converted by MHonArc 2.4.4
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 1995-2001 HUM-MOLGEN. All rights reserved. Liability and Copyright.