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  Robert Resta: DIAG (8 Messages)  
   

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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: DIAG (8 Messages)
From: Robert Resta <bc928@scn.org>
Date: Wed, 7 May 1997 08:25:09 -0700

The following messages have been submitted to the DIAG section of
HUM-MOLGEN. Replies should be made directly to the originator of
each message, unless the message is from a non-professional in
which case replies should be made to HUM-MOLGEN.

Summary of 8 Messages:

1) Attention Deficit Disorder (III)
2) Chromosome 4q21 Structural Re-Arrangements (IV)
3) Thalassemia Major (III)
4) Wilms Tumor (II)
5) Kartagener's (III)
6) Ring Chromosome 11 (IV)
7) Achondroplasia/Hypochondroplasia (IV)
8) Cytochrome C Deficiency (III)
*****************************************************************

MESSAGE 1 PATIENT REQUEST - REPLY DIRECTLY TO HUM-MOLGEN

Subject: Attention Deficit Disorder
Patient Location: USA (Alabama)
Reply To: ED-MOLGEN@NIC.SURFNET.NL

A colleague down the hall-way just stopped by to inquire about
attention deficit disorder......is this condition hereditary? if
so, what is the genetic basis for it (single-gene or complex)?
Can it be treated....a relative has been diagnosed with this
disorder and it seems to be eating-away at the whole family: lack
of sleep etc...please help...thank you for any information you
may provide:

Ed Smith
Tuskegee, Alabama
*****************************************************************

MESSAGE 2

From: Maurice Godfrey
Subject: 4q21 deletion/translocation/inversion
Reply-To: mgodfrey@unmc.edu (Maurice Godfrey)

We are interested in receiving cells from patients with 4q21
region deletions, translocations, or inversions. All our
studies will, of course, be collaborative. The research has IRB
approval from the University of Nebraska.

Maurice Godfrey, Ph.D.
University of Nebraska Medical Center
600 S. 42nd Street
Omaha, NE  68198  USA
TEL (402)559-9197
FAX (402)559-7248

*****************************************************************



MESSAGE 3

PATIENT REQUEST - RESPOND DIRECTLY TO HUM-MOLGEN

Subject:  Regarding Information About Thalasssemia Major
Patient Location: Pakistan
Reply to: ED-MOLGEN@NIC.SURFNET.NL

Kindly inform us about the recent advances in Thalassemia Major.
I have my nephew of 6 months age recently diagnosed as
Thalassemia Major case and we want to Know certain question
regarding him.

1. Can the Bone Marrow Transplant be carried out in 6 months baby
if not at what age is it possible?
2. What are the pre-requisites of this procedure?
3. How much is the cost of this procedure?
4. Who will be the donor in this case and what are the test
required to find the donor.

I would be grateful if you please respond immediately by e-mail
or by postal address given below. Please send us the maximum
details where it is best carried out and where should we contact.

Thanks & Regards.

*****************************************************************

MESSAGE 4

Subject: Wilms Tumor/Aniridia
From: Dr. Alan Khoo
Reply To: alankhoo@imr.gov.my

Dear Colleagues:

I am a clinician at the Department of Paediatrics, Kuala Lumpur
Hospital, Malaysia and a researcher at the Division of Molecular
Pathology, Institute for Medical Research, Kuala Lumpur,
Malaysia. I am interested to know:

1) What is the risk of Wilm's tumour in patients withisolated
aniridia (with normal chromosomes at 400 band resolution)?
2) What is/are the molecular genetic abnormality in such a
condition?
3) Is the AN2 gene involved in most of these cases?
4) Would trying to look for deletions at the WAGR locus
particularly the AN2 locus and defining the extent of deletions
at molecular level (eg. by looking for loss of heterozygosity of
microsatellites) be useful?
5) Are there articles in this area?

Thanks.

Dr. Alan Khoo
Division of Molecular Pathology
Institute for Medical Research
Jalan Pahang
50588 Kuala Lumpur, Malaysia

Fax: +60-3-2938306
E-mail: alankhoo@imr.gov.my
*****************************************************************

MESSAGE 5 - PATIENT REQUEST - REPLY DIRECTLY TO HUM-MOLGEN

Organization: Sentimental Journeys
Subject: Kartagener Syndrome
Patient Location: USA
Reply To: ED-MOLGEN@NIC.SURFNET.NL

I have a child with Kartagener's and am interested in
information, participating with other families or medical
research involving a cure or better medical treatment. Send info
to HUM-MOLGEN.

Christy Timmons
*****************************************************************
MESSAGE 6

From: Gerson Carakushansky, M.D.
Subject: Ring 11 Chromosome
Reply-To: gercar@unisys.com.br


Dear Sir:

We know that at least three cases of ring 11 chromosome
with phenotypes compatible with partial monosomy 11q have
been reported. We have recently studied a 5-year-old girl
referred for evaluation of growth retardation and
dysmorphic features. On clinical examination, besides
short stature she displayed other typical features of
chromosome 11q- syndrome. Cytogenetic analysis confirmed
a ring 11 chromosome. I want to know who may perform chromosome
11 specific painting probe and/or molecular  studies in this
patient and would be interested in a collaborative study.
Please send your reply to:

Prof. Dr. Gerson Carakushansky
Chief of Genetic Services
Instituto de Pediatria da UFRJ
Rio de Janeiro - Brazil
FAX: (5521) 522-3599
e-mail: gercar@unisys.com.br

*****************************************************************

MESSAGE 7

From: Marlene Huggins
Subject: Achondroplasia/hypochondroplasia complex
Reply To: hugginsm@ihis.cmh.on.ca


I would like to hear from anyone who has experience with
achondroplasia/hypochondroplasia complex.  We are following a
couple, now at 32 weeks gestation.  The mother has
hypochondroplasia, the father has achondroplasia (both proven by
molecular testing).  We have not done molecular testing on the
fetus; however, by ultrasound it appears to be severely affected.
The couple is faced with making decisions about management after
delivery.  I have found only one case describing survival past
the newborn period.  Does anyone have any clinical experience to
share?  thank you in advance for any assistance.

Marlene Huggins, MSc
Genetic Counsellor
Ontario, Canada
hugginsm@ihis.cmh.on.ca

*****************************************************************

MESSAGE 8  PATIENT REQUEST - REPLY DIRECTLY TO HUM-MOLGEN

From: DR. OSAMA KAMAL ZAKI
Subject: CYTOCHROME C OXIDASE DEF
Reply-To: ED-MOLGEN@NIC.SURFNET.NL

Dear Colleagues,

I am sending this message on the part of a parent of a case
of cytochrome c oxidase deficiency.  He had another child with
the same condition who died of heart failure at the age of 4
months.  The case is a girl and she is suffering of psychomotor
retardation with hypertrophic cardiomopathy. She is currently on
high doses of vitamins and carnitine. She has been advised to
receive coenzyme q10(100 mg/kg/day) which has been reported to be
helpful in cases of mitochondrial myopathy.

He is in need to know some center or group who is experienced in
the management of such cases, and is asking whether there is a
hope for other effective lines of therapy. Clinical details and
all lab investigations are available on your request.

Thank you


O.K. ZAKI,MD


   
 
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