Research is currently ongoing with regard to the
following chromosomes and chromosome disorders.
To add your study information to this page please click
here
and send the following
information: research coordinator's name, phone number, mailing and e-mail
addresses and details of the research study. Thank you for helping us
learn more about these very rare disorders.
September 10 2007
Ring Chromosome 20 Research
Ring Chromosome 20 Foundation has announced that the Spinner Laboratory at
The Children's Hospital of Philadelphia is beginning a new research project
to analyze ring chromosome 20. For more information contact Ring Chromosome
20 Foundation
info@ring-chromosome-20.org or 877-207-5520. Nancy Spinner PhD
of CHOP will be the principal investigator.
August 22 2006
Balanced Chromosomal Translocation Research
Clinical Geneticist Thomas Morgan, MD, of Washington
University School of Medicine/St. Louis Children's Hospital, and Child
Psychiatrist/Geneticist Matthew State, MD, PhD, of Yale University/Yale Child
Study Center welcome contacts regarding adults or children with balanced
translocations that may potentially be related to any developmental,
psychiatric, or medical diagnosis. Most balanced translocations are
benign, but some disrupt one or more genes and therefore have medical or
developmental consequences. Dr. Morgan is available to consult with
families regarding their options for research-based intensive investigation of
balanced translocations. Please contact Dr. Thomas Morgan at 314 703 7307
(cell phone), or email
morgan_t@kids.wustl.edu
August 22 2006
Study on Causes of Agenesis of the Corpus Callosum
Elliott Sherr M.D. Ph.D and colleagues in the Department of
Neurology at University of CA, San Francisco are investigating the genetic
causes and associated clinical problems for agenesis of the corpus callosum
(ACC). We are seeking individuals with complete or partial ACC that has been
documented by an MRI to participate in our study. Individuals will undergo an
interview, psychometric testing, and a physical examination. In addition, blood
samples will be requested from the individual.
For further information, see our website:
http://www.ucsf.edu/brain/callosum/callosum.htm
If you have further questions or are interested in participating
in our study, please contact the research coordinator, Vicky Woo, at (415)
502-8039 or via e-mail at woovi@neuropeds.ucsf.edu
April 19 2005
9q34 deletion Our research has led us to
identification of one gene that is critical for 9q34 deletion. In addition, we
found that clinical differences between patients depend upon the deletion size.
I have attached our recent publication regarding 9q34 deletion syndrome. We will
be glad to study individuals with 9q34 deletions, chromosomal translocations,
inversions involving 9q34 region. The study involves providing clinical
information about the child and a blood sample from the child and his or her
parents (if available).
Contact: Svetlana Yatsenko, MD Dept of Molecular and
Human Genetics, Baylor College Medicine One Baylor Plaza, Houston, TX, 77030,
USA FAX: 713-798-6596; TEL: 713-798-4986
say@bcm.tmc.edu
September 20 2004
Telomere Study The Telomere Research Project,
led by Drs. David Ledbetter and Christa Lese Martin, in the Department of Human
Genetics at Emory University, is recruiting individuals/families with a
previously identified telomere abnormality (that was not discovered on standard
chromosome analysis) for fine mapping studies to establish genotype/phenotype
correlations. Two categories of telomere rearrangements are of interest: 1)
those that are causative of an individual’s phenotype and 2) those that were
identified in an affected family member, but subsequently found to be carried by
a an unaffected family member (benign variants). If you would like further
information, please contact (404) 727-7098 or
research@molecular-rulers.org
Marker Chromosome Study The research laboratory
of Dr. David Ledbetter in the Human Genetics department at Emory University is
interested in examining the gene content of marker chromosomes, excluding those
derived from chromosome 15, to establish genotype/phenotype correlations. We are
collecting postnatal or prenatal samples with a marker chromosome. Please
contact (404) 727-7098 or
research@molecular-rulers.org
for further information regarding inclusion criteria and study details.
August 31 2004
Sex Chromosome Abnormalities
The XXYY Project
www.xxyysyndrome.org is
launching a research study to examine the similarities and unique aspects of all
forms of sex chromosome abnormalities. Included in the study are XXYY, XYY,
Klinefelter Syndrome and variants (XXY, XXXY, XXXXY, XXY/XY) TUrner Syndrome,
XXX and all other variants, fragile X Syndrome and any other syndrome involving
X or Y chromosomes. Limited transportation may be available for those who need
assistance. For more information contact Renee Beauregard
info@xxyysyndrome.org or
(303) 400-3456 or (888) 503-3456
August 17 2004
THE RING CHROMOSOME 20 FOUNDATION The Ring
Chromosome 20 Foundation is a lay advocacy organisation established to help
connect patients and their families with medical information and physicians
specializing in Ring Chromosome 20 syndrome. Ring Chromosome 20 syndrome (also
known as r(20) syndrome) is a rare chromosome disorder and for an unknown reason
causes patients to have epilepsy, usually refractory epilepsy (most devastating
and difficult type to treat). Ring Chromosome 20 syndrome is detected with a
simple blood test. Since DNA testing is not a routine test when epilepsy is
first diagnosed, the foundation believes that r(20) syndrome is an under
diagnosed condition and many more people have it than would appear
statistically. The Ring Chromosome 20 Foundation is a registered Scottish
charity and was founded in 2003 by parents of a young child suffering from
multiple seizures caused by r(20) syndrome and the adverse side effects from
certain anti-epileptic drugs. Their daughter received a vagus nerve stimulator (VNS)
to help control her seizures. With careful use of antiepileptic medication in
combination with VNS therapy, their daughter has not had convulsive seizures in
over two years. The Ring Chromosome Foundation was created to help assist other
families going through similar experiences by providing information and a
network of support. The purpose of the Ring Chromosome 20 Foundation is to
provide as much information as possible to families and patients with r(20)
syndrome. We work to connect patients and families to the best physicians,
hospitals and clinics in their area and around the world. The mission of the
Ring Chromosome 20 Foundation is to help individuals with r(20) syndrome
overcome the obstacles they face so they might lead happy, healthy and
productive lives. The foundation funds research and medical assistance
pertaining to Ring Chromosome 20 syndrome, epilepsy and its treatment.
Information on our website is also provided regarding epilepsy, genetics,
chromosome disorders and other related topics. If you have any questions, please
e-mail Pierra Roberts at
pierra@ring-chromosome-20.org .
June 24 2004
University of Washington Research Study:
Chromosome 3p Deletions and Hearing Loss The laboratory of Dr. Bruce Tempel at
the University of Washington in Seattle is currently investigating the cause of
moderate-to-severe hearing loss seen in many individuals with chromosomal
deletions at or near the end of chromosome 3p. We are looking for persons with
or without hearing loss who have deletions on chromosome 3p to participate in
our study. Background: Moderate-to-severe hearing loss is a feature seen in many
individuals with deletions on chromosome 3p. Our research has led us to one
particular gene that we believe is critical for proper hearing. If one copy of
this gene is lost due to a chromosomal deletion, we expect hearing will be
affected in a major way.
Why is this important? 1) Hearing may be overlooked in
children with 3p deletions because of other developmental delays. This greatly
limits their ability to understand and communicate with the world around them.
Identifying the cause of this hearing loss will allow care providers to catch
hearing loss earlier in these children and better tailor care to them. 2) It is
quite possible the gene responsible for hearing loss in 3p- individuals might
also cause hearing loss in the general population. Understanding the cause of
hearing loss in 3p- individuals will also benefit many others with hereditary
hearing loss.
What is involved in participating? 1) A cheek cell swab
from the person with the deletion. We’ll send you special brush that is similar
to a toothbrush. You rub the brush on the inside of his or her cheek for 30-60
seconds and then send it back to us. This is all we need to collect enough DNA
for our study. 2) Permission to look at his or her medical records. We’re
looking for anything in the records about hearing—hearing loss or none. We will
pay for all postage and fees. You can do everything at your convenience from the
comfort of your own home. Patient confidentiality will be strictly maintained.
Participants will not be paid. If you would like, we will follow-up with the
results of our study. To participate or simply ask more questions, please
contact Brendan McCullough or Valerie Street at the HEAR group. We may be
reached by email:
brenmcc@u.washington.edu
By phone: 800.332.0320. The confidentiality of email communications cannot be
guaranteed.
May 20 2004 13q deletion and Xp or Xq deletions
1. Children with 13q- syndrome
Children with chromosome 13 deletions or
translocations sought for genetic study. We are particularly interested in 13q
deletions and will be glad to review any karyotypes that include "del(13)" or
"der(13)" for eligibility. The study involves providing clinical information
about the child and a blood or saliva sample from the child and his or her
parents (if available). There is no cost to participants. Interested
persons may contact Dr. Andrew Zinn at The University of Texas Southwestern
Medical School by phone (214 648-1615) or email (Andrew.Zinn@UTSouthwestern.edu) for
more information.
2. Girls or women with partial deletions of the X
chromosome (46,XXp- or 46,XXq- karyotype) sought for genetic study. The
study involves traveling to Philadelphia for a detailed clinical and genetic
evaluation. The study is funded by the National Institutes of Health (NIH).
There is no cost to participants. Interested persons may contact Dr. Andrew Zinn
at The University of Texas Southwestern Medical School by phone (214 648-1615)
or email
(Andrew.Zinn@UTSouthwestern.edu)
for more information.
April 16 2004 Ring 14
The chromosomal
syndrome "Ring 14" consists of the partial loss of genetic material from
chromosome 14. It is characterized at the somatic level by an involvement of
many organs among which the central nervous system is the major one in terms of
clinical symptomatology.
The clinical
symptoms of Ring14 syndrome, in fact, vary considerably in each patient and are
particularly represented by psychomotor delay, epilepsy, retinal
hyperpigmentation and a distinctive facial features.
Nevertheless, a
precise definition of this condition is still lacking, both at the genetic
(genotype) and clinical levels (phenotype). This is essentially due to the fact
that cases are poorly described in the literature to be able to analyse the
associated symptoms in a statistically accurate way.
The rarity of the
pathology and scarce knowledge of the clinical symptomatology and its evolution
are also at the basis of the few scientific studies undertaken to search for the
causes and the characteristics of the genetic damage, of their role in
determining the clinical picture. This also explains the paucity of available
therapeutic and rehabilitation tools.
Because of all
of this, it is essential that detailed clinical and genetic studies are
undertaken that will allow for accurate knowledge of this rare illness.
The clinical
approach.
The first
objective is the creation of a "database" to collect details of cases
highlighted nationally, Europe-wide and, subsequently, worldwide. The database
would hold a comprehensive details of the clinical picture, instrumental and
laboratory findings in order to bring a systematic and global description of
Ring14 syndrome.
The database, will
be fulfilled with all the informations from electroencephalographic (EEG),
visual, auditory, somatosensorial Evoked Potential, neuroradiological findings (RMN
and Cat scan), and functional and metabolic neuroimaging (PET and SPECT)
studies. All these data should allow for increased knowledge of the specific
areas of the brain responsible for learning disability/intellectual impairment
and epilepsy in Ring 14 patients.
The genetic
approach.
It is necessary
to study the genotype-phenotype correlation in order to understand the
relationship between genetic cause (genotype) and somatic effect (phenotype).
Simultaneously,
a clinical study will be undertaken to establish the quality and the quantity of
genetic material compromised in individual patients and to correlate this with
the clinical symptomatology, as well as examining the parental origin (maternal
or paternal) of the damaged chromosome 14 (imprinting) and its role in the
clinical symptomatology.
It is essential
to remember that chromosome 14 is subject to "imprinting" in humans: this means
that some regions of this chromosome have different functions depending upon
the parental origin of the genetic material.
Throughout this
project, detailed descriptions of clinical symptoms and identification of the
anatomical and functional defects of cerebral areas for which we know the
function (e.g. primary and associative areas for language), correlated with the
quality and quantity of damaged genetic material, will be examined. The final
priority of this study will be to set out the bases for our best understanding
of the illness, so that individualized, appropriate therapeutic and
rehabilitative strategies can be devised.
The project will
use the expertise and existing medical and instrumental resources in the centres
of reference of medical specialists in the Scientific Committee (Rome, Bologna,
Reggio Emilia, Milan). It will develop in a first phase lasting at least 2 years
and requiring every form of collaboration and support in order to bring it to
realisation.
For more information contact Stefania
Azzali at Ring14
info@ring14.com
October
7 2003
Individuals with a balanced chromosome translocation or inversion:
Researchers
affiliated with Harvard Medical School are involved in a research study to find
genes that are important in human development. The Developmental Genome Anatomy
Project (DGAP) aims to study genes that have been altered by chromosome
rearrangements. In some individuals a balanced chromosome rearrangement is
associated with mental impairment and/or physical abnormalities. It is possible
that when the rearrangement occurred a gene (or genes) were broken or placed out
of order, resulting in developmental problems.
The focus of
the DGAP investigation is to study the chromosomes and genes from individuals
with balanced chromosome rearrangements such as inversions or translocations who
also have physical abnormalities, disabilities, and/or mental impairment.
Such individuals are usually the first in the family to have a chromosome
rearrangement (the parents do not have the rearrangement and do not have the
same medical problems). Participation in DGAP involves giving a blood sample at
your local doctor’s office, reviewing and signing the consent form, and asking
your doctor to provide medical records. The identity of the participant and
results are kept confidential. It is hoped that the research will contribute to
a better understanding of how the human body grows and develops.
For
more information please contact Heather Ferguson, M.S. at
hferguson1@partners.org
or 1-866-772-5753, or Azra Ligon, Ph.D. at
aligon@rics.bwh.harvard.edu
or 617-732-7671. Please see our web site at
http://dgap.harvard.edu
July 7 2003
Balanced Chromosome Translocations or Balanced Inversions
With Neurological Disorders
The laboratory of Dr. Christopher Walsh at Beth Israel
Deaconess Medical Center and Harvard Medical School in Boston is searching for
genes that are involved in brain development. We are currently enrolling
individuals in our research who have a balanced chromosome translocation or a
balanced inversion and a neurological disorder, such as epilepsy, mental
retardation, autism, or a brain malformation. It is likely that the breakpoints
of the translocation may indicate the location of a gene involved in causing the
neurological disorder. Identification of these genes is crucial in developing
our understanding of brain development and function
Participation in this
study involves allowing the medical records of the person with the translocation
to be reviewed. We would also request a blood sample from each parent as well
as from the person with the deletion.
For more information
about this study, or if you are interested in participating, please contact:
Adria Bodell or Kira Apse, research coordinators, at 617-667-8035 or
617-667-8044. They may also be reached by mail at Walsh Laboratory, Harvard
Institutes of Medicine room 807, 4 Blackfan Circle, Boston, MA 02115 or by
email at
walshlab@bidmc.harvard.edu.
For more information
about the Walsh Laboratory go to www.walshlab.org.
June 19 2003
5p15 Study
The laboratory of Dr. Christopher
Walsh at Beth Israel Deaconess Medical Center and Harvard Medical School in
Boston is searching for genes that are involved in brain development. We are
currently enrolling individuals in our research who have a deletion involving
chromosome 5p15. Preliminary data suggests that a gene involved in brain
development is likely to be located in this region.
Participation in this study involves
allowing the medical records of the person with the deletion to be reviewed. We
would also request a blood sample from each parent as well as from the person
with the deletion.
For more information about this
study, or if you are interested in participating, please contact: Adria Bodell,
research coordinator, at 617-667-8035. She may also be reached by mail at Walsh
Laboratory, Harvard Institutes of Medicine room 807, 4 Blackfan Circle, Boston,
MA 02115 or by email at
abodell@caregroup.harvard.edu.
For more information about the Walsh
Laboratory go to www.walshlab.org.
Update March 17, 2002
Study Information:
The Brain Malformation Research Project located at The University of Chicago
has recently begun molecular genetic studies of cerebellar brain malformations
and their relationship to deletions of chromosome 3q. We are currently working
with 8 patients and would like to contact more in order to further delineate the
above relationship. Our goal is to find the gene(s) responsible for the above
mentioned brain abnormalities so that we can gain a better understanding of
their cause. Participation in the study entails sharing patient's history and
copies of MRI or CT scans if available. This study is directed by Drs. William
B. Dobyns and Kathleen J. Millen. Those interested in participating or finding
out more information should contact Inessa Grinberg at (773)834-7793 or
igrinber@midway.uchicago.edu
Thank you,
Inessa Grinberg
University of Chicago
Department of Human Genetics
Room 319 CLSC
920 E. 58th Street
Chicago, IL 60637
Update January 11, 2002
One of the post-doctoral fellows in our laboratory, Dr. Volney Sheen,is
interested in locating families with deletions, duplications or translocations
involving chromosome 5p15. We have evidence that a gene involved in the
migration of neurons during brain development is likely to be in this region. By
studying the DNA from individuals with chromosome rearrangements involving 5p15
and comparing their particular clinical features (problems with brain
development vs. no problems with brain development) we hope to "hone in" on this
gene. If individuals or families are interested, I would want to talk with them
to obtain more information to find out if they would be appropriate for
participation in this project. As before, participation would involve sending us
a blood sample from the child with the chromosome rearrangement and the parents.
We would also want to review medical records and any brain imaging films that
might be available.
Adria Bodell, MS
Walsh Laboratory
Harvard Institutes of Medicine, room 817
4 Blackfan Circle
Boston, MA 02115
phone: 617-667-8035
fax: 617-667-0815
abodell@caregroup.harvard.edu
1p36 deletion and 14 UPD
Dr. Lisa Shaffer Baylor Medical College Houston, TX
lshaffer@bcm.tmc.edu
1q32, 1q42-44 any anomoly, 5p deletion, 6q21, 6p25 -
6q27 any anomaly, 15q11-13 affected by autism, xp22:
Dr. Christopher Walsh
Bullard Prof. of Neurology Harvard Med School
Rm. 846, Harvard Institute of Medicine
77 Avenue Louis Pasteur
Boston, MA 02115
(617) 667-0813 fax: (617) 667 - 0815
2q24.2 and 6q25 Study
The laboratory of Dr. Christopher
Walsh at Beth Israel Deaconess Medical Center and Harvard Medical School in
Boston is searching for genes that are involved in brain development. We are
currently enrolling individuals in our research who have a deletion involving
either chromosome 6q25 or 2q24.2. Preliminary data suggests that genes
involved in brain development are likely to be located in these regions For
individuals with deletions involving 2q24.2, we are particularly interested in
enrolling individuals with language problems as well.
Participation in this study involves
allowing the medical records of the person with the deletion to be reviewed. We
would also request a blood sample from each parent as well as from the person
with the deletion.
For more information about this
study, or if you are interested in participating, please contact: Adria Bodell,
research coordinator, at 617-667-8035. She may also be reached by mail at Walsh
Laboratory, Harvard Institutes of Medicine room 807, 4 Blackfan Circle, Boston,
MA 02115 or by email at
abodell@caregroup.harvard.edu.
For more information about the Walsh
Laboratory go to
www.walshlab.org.
3q interstitial deletion - eye development
Dr. Alison Male and Dr. Jonathan Berg
The Genetics Centre, 7th floor New Guy's House
Guy's Hospital St. Thomas St.London, SEI 9RT
(44) 020-7955-4648 fax: (44) 020-7955-2550
Alison.Male@gstt.sthames.nhs.uk
3q and cerebellar brain malformation
University of Chicago Inessa Grinberg (773) 834-7793
ingrinber@midway.uchicago.edu
Chromosome
6q deletion
Children's Hospital of Philadelphia is conducting
research on chromosome 6q deletions, and determining the regions of 6q
chromosome associated with cardiac disease.
Lynn D. Bason, M.S., C.G.C Genetic Counselor Program Coordinator
Children's Hospital of Philadelphia
34th Street & Civic Center Blvd.
Philadelphia, PA 19104
Phone (215) 590-4248 fax (215) 590-3850 Email:
bason@e-mail.chop.edu
Chromosome 6q 25 deletion
The laboratory of Dr. Christopher
Walsh at Beth Israel Deaconess Medical Center and Harvard Medical School in
Boston is searching for genes that are involved in brain development. We are
currently enrolling individuals in our research who have a deletion involving
chromosome 6q25. Preliminary data suggests that a gene involved in brain
development is likely to be located in this region.
Participation in this study involves
allowing the medical records of the person with the deletion to be reviewed. We
would also request a blood sample from each parent as well as from the person
with the deletion.
For more information about this
study, or if you are interested in participating, please contact: Adria Bodell,
research coordinator, at 617-667-8035. She may also be reached by mail at Walsh
Laboratory, Harvard Institutes of Medicine room 807, 4 Blackfan Circle, Boston,
MA 02115 or by email at
abodell@caregroup.harvard.edu.
For more information about the Walsh
Laboratory go to www.walshlab.org.
10p deletion research
Deletion 10p syndrome is not very well-characterized.
The clinical features in some previously reported cases reminiscent the
phenotype of DiGeorge or Velocardiofacial syndrome. However, the clinical
findings are not consistent highly depending on the size of the breakpoints of
the deletion.
The aim of our study is to define the correlation
between clinical observation and the breakpoints of deletion both
cytogenetically and molecularly. The information gathered is important to be
used a source of clinical information for the patients and their families, as
well as professionals.
We would like to contact with families and their
physicians for participation in this study.
Sau W Cheung, Ph.D., M.B.A. Director, Kleberg
Cytogenetics Laboratory Baylor College of Medicine
One Baylor Plaza, Room M410 Houston Texas 77030
Tel: 713-798-4984 FAX: 713-798-3157
11q balanced translocation/inversion
Dr. Paul Grossfield - pediatric cardiologist at UC San
Diego (619) 543-5980
Dr. Paul Grossfield is on the faculty at the University of California, San
Diego. He is doing research on genetic causes of heart defects as well as mental
retardation. He has been studying intensively children with Jacobsen Syndrome,
which is due to a 11q terminal deletion. They have recently found the gene that
causes the bleeding problem in these children, and are looking for the gene that
causes the severe, sometimes fatal heart defects these children have, as well as
mental retardation. Specifically, Dr. Grossfeld is looking for any patient that
has a heart defect and/or mental retardation or any other serious medical
problem, who has a balanced translocation or inversion in 11q. In addition, Dr.
Grossfeld is interested in ANY patient with a balanced translocation or
inversion in ANY chromosome.
Paul Grossfeld, M.D.
Division of Pediatric Cardiology
University of California, San Diego
PDGMD@aol.com
13q especially kidney problems -
Dr Abhay Vats from
Department of Pediatric Nephrology at Children's Hospital of Pittsburgh would
like to invite you to participate in their studies on association of chromosome
13q with kidney problems. The main idea behind these studies is to identify
gene(s) located in the 13q region that are responsible for proper development
and functioning of the kidneys. Such studies can benefit us by increasing our
knowledge of the genetic conditions affecting the kidneys and may in future lead
to new ways of identifying and possibly treating such conditions.
Briefly, the kidney problems with 13 q deletion are not well known. Dr Vats'
group has so far identified several children with 13 q deletion who have kidney
failure or protein in the urine or have malformations of urinary tract. One
child with 13q32 deletion has complete kidney failure and is on dialysis
awaiting kidney transplantation. Their work has led to identification of two
critical regions (on 13q22 and 13q32) that are associated with kidney diseases).
They would like to see if there are any other such children and investigate them
further in order to narrow down the areas in the 13q region that has kidney
development related genes. However, unlike many other organ systems, the kidney
problems may not be readily evident and there may not be any symptoms at all.
These problems are most often detected by doing a urine or blood test or a
radiological investigation (such as ultrasound of the kidneys). Many a times the
kidney problem tends to worsen with time and may only manifest as the child
grows older. Hence, they would like to know more about your child with 13q
deletion and if he / she has been found to have kidney problems. Also if no
kidney related problems are known they would like to investigate your child by a
few simple tests including ultrasound. If your child is found to have any
kidney related problems, then, as part of the studies a specimen of blood from
your child and both the parents (and if possible urine from your child) will be
needed. The blood samples will be used to isolate DNA to study various candidate
genes.
The participation in these studies is entirely voluntary. All the research tests
will be paid for by them and we will bear the cost of any mailings, etc. Also,
each individual (ie parents and child ) will be required to sign a consent form
for participating in these studies. For further information please contact:
Dr Abhay Vats, MD
Pediatric Nephrology
Children's Hospital of Pittsburgh
3705, Fifth Avenue
Pittsburgh PA 15213 - 2583
Tel : +1 412 692 5182 Fax: +1 412 692 7443
Email:
abhay.vats@chp.edu
13q deletion, ring 13 and partial trisomy 13
Dr. Dorothy Warburton
cuh@cuccfa.ccc.columbia.edu
212-305-7143
22q11 deletions, translocation
Dear Colleagues:
We are announcing an IRB-approved study (Albert Einstein College of Medicine) on
chromosome rearrangements and mental retardation. Dr. Bernice Morrow and I here
at Montefiore Medical Center are particularly interested in persons who have
chromosome rearrangements involving the 22q11 region such as translocations,
deletions (velo-cardio-facial syndrome/DiGeorge syndrome, VCFS/DGS) or those who
have a clinical diagnosis of VCFS/DGS but not have a detectable deletion. If you
have any patients who meet this criteria, please contact me to discuss your
case. Thank you.
Suzanne M Carter,MS Reproductive Genetics Montefiore Med Ctr Bronx, NY 10461
718.405.8158 FAX 718.405.8154