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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 8 messages/1 PT req./2 replies
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Thu, 1 Aug 1996 23:16:14 +0000
Date-warning: Date header was inserted by ICIL64.CILEA.IT

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 8 submessage(s):

1)      23 mo little girl with a karyotype
46,XX,del(14)(q11.2 q13)

2)      Mandibulo-Facial Dysostosis

3)      Reply to Ricky Lewis: inv7 and OI

4)      Lipodystrophy and OI II and III

5)       familial myoclonus/ PT   REQUEST

6)      Gene therapy research for Fragile X syndrome

7)      12,4 translocation patient/reply to Eileen B

8)      A-T study; req. for collaboration from Germany

  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics network
  Diagnostics/Clinical Research Section

I am taking care of a 23 mo little girl with a karyotype
46,XX,del(14)(q11.2 q13). I would like to share information on this case
with whomever has followed patients showing rearrangements within the same
chromosomal region.

Romeo Carrozzo, M.D.
Servizio di Genetica Medica
Ospedale San Raffaele
Via Olgettina 58
20132 Milano
Tel +39 2 26437329
Fax +39 2 21560220
e-mail: carrozzo@tigem.it


Good Morning,
I have seen a newborn white male with macrostomia, and bilateral
preauricular tags appearing almost like inverse duplicated pinnae.  His
external auditory canals are present but small, particularly at the outer
opening.  His ear pinnae are normal otherwise.  His palpebral fissures
downslant slightly.  His zygomatic arches are intact.  His lid margins are
normal and he has no extension of hair onto his face.  He is normal below
the neck.  He is a behaviorally normal infant, but is not yet a month old.
His mother is caucasian.  Paternity is disputed, but the father may be of
caucasian/asian mix.
In a literature search, I have come across an article by Hunt and Smith
from the early 1950's entitled 'Mandibulo-Facial Dysostosis'.  The pictures
in this article describe my patient exactly.
Subsequent to that article, all references equate MFD with Treacher Collins
Sydrome.  Neither my patient nor the patient in the Hunt and Smith article
has Treacher Collins syndrome.
I would be grateful for any input that anyone might have on this apparent

Angela E. Scheuerle, M.D.
Assistant Professor
Division of Medical Genetics
Department of Pediatrics
UT Health Science Center - Houston
6431 Fannin, MSB 3.144
Houston TX  77030


In reply to Rick Lewis' request on the risk of OI or EDS VII in a carrier of
46 XY inv(7)q21-q22 , I can offer the following comments:

1. It is correct that COL1A2 maps in that area.

2. If the gene were interrupted by the inversion, you might expect a mild or
even asymptomatic form of OI, as truncated chains would most probably NOT
participate in collagen trimer formation ( = null allele of COL1A2 has no or
minimal clinical consequences).

3. If I remember well (but I have no time to check the paper - was it a Alex
Knisely case?), the reported case of severe OI with such an inversion had to
be explained as "that inversion PLUS a structural mutation on the other
chromosome". I would check for that.

4. EDS type VIIB is equally highly unlikely. That is caused by exon 6
skipping mutations only, not likely to be produced by a break through the gene.

5. IF the COL1A2 gene were indeed interrupted by the inversion, the proband
would have to rely on an intact gene on the other chromosome. A mutation in
the other gene might indeed be deleterious.

6. I would not worry with OI - especially if good ultrasound (at what
gestational week?) is normal.

7. Perhaps one should worry about other consequences - often, inversions
which appear to be balanced do have clinical consequences - mental
retardation or so. Check the parents, it would be very nice to find the same
in one parent.

Good luck and best regards. Please do let us know the outcome.

PD Dr. A. Superti-Furga
Division of Metabolic and Molecular Diseases
Department of Pediatrics
University of Zurich
CH-8032 Zurich, Switzerland
Phone +41-1-266-7722
FAX  +41-1-266-7167
Email asuperti@kispi.unizh.ch


We are interested in information about groups that study Lipodystrophy
and molecular aspects of Osteogenesis Imperfecta types II and III.You can
write direct to the email vferraz@usp.br or to HUM-MOLGEN list. Thanks.

########## Victor E. de Faria Ferraz  ||  Dep. Genetica-FMRP-USP ##########
       ### Email: vferraz@usp.br      ||  Rib. Preto-SP-Brasil   ###


        I am in my last year of undergraduate study and am currently working
at the neurogenetics lab at the Kennedy Krieger Institute of Johns Hopkins
University. I am performing biochemical genetic research on certain
metabolic diseases and would like to find some information on one which
affects my family. My family has what is known as familial myoclonus, but it
is unlike any other strain of the disease. Baltic myoclonus and epileptic
myoclonus have been ruled out. It is an autosomal dominant disease which was
passed on by my father and exists in 2 of the 4 children in my family, my
younger brother and sister. We have hit a dead end though, there is no more
information which can be given to us by the doctors we have seen. Could
anyone doing research or with any knowledge of the disorder please send me
some information or a place where I could find it. The disease only seems to
affect the motor cortex functions and causes sudden jerks. It however does
not cause seizures or any mental abnormalities. My e-mail address is
Hlubbs@erols.com, please direct any comments to Chris.
                                        My sincere thanks,

Apparent patient location: Maryland, US



I am interested in persuing the use of the adeno-associated virus as a
vector to introduce the normal FMR-1 gene into the brains of the Fragile X
"knockout mouse" model.

I am a family physician with a full time medical practice in
Toronto,Ontario, Canada. In July of 1995 my wife and I learned that two
of our three young sons had inherited the Fragile X syndrome. They were
3 years old and 18 months old respectively.

I was very surprised to learn how little the general medical profession
knew about the condition , and even more distressed when I learned how
low a research priority it was in the academic community.

I wanted to use my scientific and medical background to take things into
my own hands, so that a treatment could be found in time to benefit
my own children. Consequently, I began reading every scientific
paper written on the subject.

I believe that the tremendous advances that have occurred in molecular
genetics over the past five years have set the stage for animal trials
and ultimately some form of gene therapy for the Fragile X syndrome in
humans in the next 5 to 10 years.

My delemma is that I have been trained as a clinician and have no
research experience and no formal university affiliation.  I understand
the theory involved but know nothing of the practical aspects, such as
the equipment and materials required for molecular modeling, recombinant
DNA cloning, sequencing and expression etc.

This is only my second step of the proverbial "thousand mile journey",
and I need this information when I approach the various labs in the area
to negotiate the use of their equipment for this research.

Thank you once again for your kind attention and cooperation in this
matter. I hope you find this information helpful in defining my position
and goals, and look forward to hearing from you in the near future.

Carlo Paribello M.D.
Toronto, Ont. Canada


With regard to the 12,4 translocation patient, we have some experience with
chr12 abnormalities.  I would be happy to provide info to thi s patient, but
would need more information regarding the details of the cytogenetic
localization of the breakpoints, i.e. what giemsa band.
Craig T. Basson M.D, Ph.D.
Cardiovascular Genetics Center
Brigham and Women's Hospital
Boston, MA
Pager (617)732-6987, #4133
Email Basson@rascal.med.harvard.edu

My name is Markus Stumm,
I am a biologist and I am the leader of the cytogenetic lab
in the institute of human genetics Magdeburg.
Our institute is part of the university hospital Magdeburg.
In our lab we are performing prenatal and postnatal routine
We are offering special diagnostic for AT, AT-V, ICFS
and for patients who react hypersensitiv to irradiation (e. g.
X-ray, gamma-ray).
My main topics in science are chromosomal instability syndromes and
I have performed cell fusion studies in ICFS (Schuffenhauer et al.,
Human Genet. 1995) and AT-V (NBS)(submitted).
Also, I have performed linkage analysis of AT-V patients (Stumm et al., AJHG
For further cell fusion studies (testing for heterogeneity)
and linkage analysis (are soon in progress for AT-V)
it it is necessary to collect more patients suffering from these rare diseases.
Only an optimal number of exactly diagnosed patients, can lead to the
isolation of genes responsible for these diseases.
I have good connections to other labs working in this field
(e.g. the german AT-consortium).
Therefore, I you have any patients with clinical hallmarks of AT, AT-V or
ICF please contact me for cytogenetic diagnosis.
Furthermore, if you have radiosensitive tumor-patients please contact
me to create a project.


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