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
If you wish to learn more and perhaps participate in any research
study, we recommend you always obtain the following information
from the researchers involved.
Listing of potential benefits or drawbacks of this research to
participating families and the affected individual.
Statement that all participants are free to withdraw from the
research at any time.
Specific information on exactly what blood samples (if any)
will be needed and how these samples should be sent to the
researcher (and details on any financial reimbursement for
Assurance that Chromosome Disorder Outreach, Inc. and all
participants will be provided with updates on any research
Should you have any further questions or concerns, please check with
your personal physician before participating in any research study.
Deletion 3q21 Research
We recently identified mutations in the gene GATA2, located on chromosome 3q21, as a
cause of hereditary predisposition to myelodysplasia and myeloid leukemia. Others have
since shown that mutations in GATA2, in addition to causing familial forms of
myelodysplasia and leukemia, are also associated with congenital lymphedema and low
monocyte counts, predisposing to certain infections, including mycobacterial infections
related to tuberculosis. Subsequently, we have identified several patients with small
chromosomal deletions, including GATA2, in which some or all of these features, plus
additional problems related to loss of other genes, are also present. Individuals with
3q21 deletions spanning the GATA2 gene should therefore be evaluated with an eye toward
a possible increased risk for myelodysplasia and leukemia as well as vulnerability to
opportunistic infections. Our laboratory has a University of Washington Institutional
Review Board approved protocol for defining genetic aspects of the disorder.
If interested contact:
Marshall S. Horwitz, M.D., Ph.D.
University of Washington
Professor & Director, Medical Scientist Training Program
Department of Pathology (adjunct, Medicine, Genome Sciences & Biology)
The Experience of a Diagnosis — Lessons From Parents of Children With
Rare Chromosome Deletions/Duplications
Individuals who have a child or are the legal guardian of an individual with
a rare chromosome deletion/duplication that have been diagnosed through
Microarray Comparative Genomic Hybridization (cgh or array cgh) are being
invited by a genetic counseling student at Sarah Lawrence College in Bronxville,
NY to participate in a study on their diagnostic experience. The goal of this study
is to take a look at the experiences of families, throughout the diagnosis process.
It is hoped that the results from this study will lay the groundwork for studies that
will try to better help genetics professionals guide families through the process
and better address their needs. If you agree to participate in this study, you will
complete a web-based questionnaire, which should take approximately 20
minutes to complete. There is no cost associated and all participants are free to
withdraw from the research at any time.
The following link will lead you to an online consent form, which will lead to
the study questionnaire. If you prefer, paper copies of the consent and
questionnaire can be mailed to you at no charge to you by contacting the
researcher, Emilie M. Creede (email@example.com).
Emilie M. Creede, Genetic Counseling Student, Sarah Lawrence College,
firstname.lastname@example.org, (914) 309–5498.
If you have any questions/concerns about your participation in this study that
have not been answered by the researcher, you may contact Dr. Nina Esaki at
914–965–3700 or NEsaki@jdam.org.
Autism/Intellectual Disability Genetics Research Study -
Autism and Genetics: What Do We Know?
The Developmental Disorders Genetics Research Program (DDGRP) is investigating
genetic and molecular mechanisms underlying autism and intellectual disability.
We use genome–wide strategies to identify patterns in genes and chromosomes
that may be associated with these disorders.
The long–term goal of this research is to improve genetic diagnosis and
treatments, with the hope of improving outcomes for affected individuals.
We are inviting families to participate if there is at least one member affected
by autism or a related condition. Participation in the study consists of a
one–time interview during which we go over the individual’s medical
and developmental history, as well as construct a family tree. We may also ask
children to participate in a short evaluation. Finally, we will ask all family
members in attendance to provide a DNA sample. In the event that an in–person
appointment here in Rhode Island is not possible, we are also able to conduct
phone interviews and send families saliva collection kits for the purpose of
submitting a DNA sample via saliva.
By participating in the study, you can help future families like your own who
are affected by autism, and contribute to their diagnosis and treatment.
To learn more about our program or to enroll and schedule an interview,
Research coordinator’s name: Eric Morrow, MD, PhD
Phone number: 401–432–1200
Developmental Disorders Genetics Research Program (DDGRP)
1011 Veterans Memorial Parkway
East Providence, RI 02915
E–mail addresses: email@example.com
(for research group) or firstname.lastname@example.org
(for Dr. Morrow, the Principal Investigator)
For more information, please visit:
Help build a research resource for chromosome disorders
The National Institute of General Medical Sciences supports a DNA biobank and
cell repository at the Coriell Institute for Medical Research in Camden, NJ.
This biobank creates cell lines, DNA and other materials from blood or tissue
samples and makes these important resources available to scientists worldwide
to facilitate research on the diagnosis, treatment and prevention of rare disorders.
We are interested in collecting samples from individuals with chromosome disorders,
including but not limited to: rare trisomies, ring chromosomes, micro deletion/duplication
syndromes, and balanced and unbalanced translocations or inversions. Participation
requires a blood or tissue sample and completion of an informed consent, submission
form and a clinical information summary form. Coriell provides a sample collection
kit and covers the cost of shipment. Unfortunately, Coriell cannot cover any
costs associated with sample collection such as blood draw fees or doctor's
office co-pays. Interested sample donors may contact:
Tara J. Schmidlen, MS, CGC
Certified Genetic Counselor
NIGMS Human Genetic Cell Repository
Coriell Institute for Medical Research
403 Haddon Avenue
Camden, NJ 08103
FAQs About the NIGMS Repository
Molecular Study of Balanced X;autosomal Translocations
–in search of genes critical for intellectual disability and cognitive impairment
Medical College of Georgia in United States has been working on X;autosomal
balanced chromosome translocations to identify disrupted disease genes at the
The symptoms seen in the carrier of balanced chromosome translocation is
generally caused by a gene/genes disrupted at the one of the breakpoint of
translocation. So the aim of this study is to discover the genes on the X chromosome
that contribute to intellectual disability and speech delay by sequencing the
breakpoints of apparently balanced X;autosome translocations. Chromosome X
contains approximately 2000 genes and to identify which genes are at the breakpoints
on chromosome X will shed light on understanding the cause of this devastating
Intellectual disability (ID) is the most frequently reported developmental disability,
affecting cognitive function in about 1%–3% of people worldwide. A large
number of genes distributed throughout the genome are anticipated to cause ID
and more than 80 genes that cause syndromic and nonsyndromic ID have been identified
on chromosome X so far.
This study will lead the way towards greater understanding of the mechanisms how
intellectual disability and speech delay occur. Ultimately we aim to improve the
services and treatment to the affected families.
Most importantly, we will keep the families informed of progress made in our research
by telling which gene is disrupted at the breakpoint of the carrier of balanced
We are also willing to initiate molecular study of balanced chromosome translocations
not involving chromosome X as well to identify the cause of congenital anomalies.
We have already a couple of individuals participating in this study and there
is no cost for you to participate in this molecular research study. We will request
small amount of blood samples from you and available family members in order to
determine the breakpoint and parental origin of the translocation. We will pay
shipping costs by providing our Fedex number.
All participants are free to withdraw from the research at any time and will
be provided with updates on our research progress.
This study is performed by Dr. Lawrence Layman and Hyung–Goo Kim at the Medical
College of Georgia within the Institute of Molecular Medicine & Genetics.
Contact email: email@example.com (Hyung–Goo Kim) or firstname.lastname@example.org (Lynn Chorich)
Contact telephone number: 001–706–721–7591
Research study on testosterone therapy in males with XXY / Klinefelter syndrome, XXYY, XXXY and XXXXY
The eXtraordinarY Kids Clinic at The Children's Hospital in Denver is conducting
a study of the psychological, behavioral, and motor effects of testosterone
replacement therapy in adolescent or young adult males with XXY/Klinefelter
syndrome, XXYY, XXXY, and XXXXY. Males with these conditions who are starting
on testosterone therapy are eligible to participate. Participants of the study
will have neuropsychological, motor, and speech/language assessments at baseline,
and again 1 year after starting testosterone therapy. Questionnaires will be
completed by the participant and his parents at baseline and at 3 additional
timepoints during the year. Limited travel funds may be available. Interested
participants should call Susan at 720-777-8361 for more information.
Research on Chromosome Abnormalities, Brain Malformations and
The Walsh Laboratory at the Children’s Hospital Boston and Beth
Israel Deaconess Medical Center is looking for genes involved in
brain development. We are currently enrolling individuals with
known chromosome abnormalities seen on chromosome microarray testing
and/or karyotype who also have brain malformations, such as
polymicrogyria, lissencephaly, Walker–Warburg syndrome,
heterotopias, and cerebellar hypoplasia, and inherited disorders of
cognition, such as familial mental retardation and familial autism.
Adults and children with these conditions, and their family members,
are invited to participate in our study. Examples of chromosome
regions currently under study include: 1q32, 1q42–44, 5p15, 6q21,
6q25, 6p25–6q27, 15q11–13, Xp22 as well as balanced and unbalanced
chromosome translocations and inversions.
Details we request to receive include copies of MRI images and
medical records, particularly the results of previous genetic
testing. Participation in our research involves providing a DNA
sample, usually by giving a small amount of blood, as well as
sharing information about medical and family history. We request DNA
samples from affected individuals as well as their parents and
healthy siblings, when possible. Reading and signing a research
consent form is required before enrollment.
For more information or if you are interested in participating,
please contact Brenda Barry, research coordinator, at 617-919-4371.
She may also be reached at
or at 300 Longwood Avenue, CHB, Bldg CLS 15070-Walsh Laboratory,
Boston, MA 02115.
For more information on the Walsh Lab please visit: walshlab.org
Chromosome 13 study
A new research project to test children with chromosome 13
abnormalities by microarray to allow more precise definition of what
is deleted/duplicated and will identify all the genes in the
deleted/duplicated region. Since estimating which parts are deleted
using banding alone is somewhat inexact, sometimes even the
breakpoint of the deletion may change somewhat. The goal of our
study is to use the precisely defined chromosome 13 deletions or
duplications and the clinical features of the children to allow us
to deduce what genes are involved with what traits. This should
ultimately make prediction of outcome either prenatally or after
birth much more accurate, as well as to provide information to
parents on what would be the best medical care for their children.
Vaidehi Jobanputra, Ph.D.,FACMG
Columbia University Medical Center
CHC - 406 Genetics Laboratory
New York, NY 10032
Subtelomere Rearrangement Study
Patients and families with previously identified subtelomeric
rearrangements are encouraged to enroll in a study at Emory
University in the Department of Human Genetics. The lab of Dr. Katie
Rudd is researching the mechanisms of DNA breakage at the ends of
chromosomes. Participants will be requested to give a blood sample,
and subtelomeric breakpoints will be identified by high-resolution
array CGH. More information can be obtained by contacting Dr. Rudd
International WAGR Syndrome and 11p Deletion Research Study
Children and adults with WAGR Syndrome or other 11p deletions and
their parents are invited to participate in a clinical study
sponsored by the Eunice Kennedy Shriver National Institute of Child
Health and Human Development, which is part of the National
Institutes of Health (NIH).
The purpose of the study is to learn more about how the genes
involved in WAGR Syndrome and other 11p deletions affect people with
Participation involves providing blood samples and medical records
to NIH investigators, and if certain criteria are met, the option
of also having an inpatient evaluation at the NIH Clinical Research
Center in Bethesda, Maryland.
There is no cost for participating in the study. Eligible
participants will be compensated for their time and transportation
For more information, please contact:
Shannon Fuhr, B.A.
WAGR Syndrome Study Coordinator
Joan Han, MD
WAGR Syndrome Study Principal Investigator
Identification of a new gene involved in DiGeorge syndrome II at 10p13
1. Relevance to birth defects:
Congenital heart defects are the most common developmental anomaly and the leading
non-infectious cause of mortality in newborns. Conotruncal heart defects, which
account for 50-60% of all congenital heart malformations, are known to have a strong
genetic component. They occur either as an isolated malformation or in association
with extracardiac anomalies. In particular, conotruncal heart defects constitute
a cardinal component of branchial arch syndromes such as DiGeorge syndrome, whose
wide phenotypic spectrum includes cardiac defects, craniofacial dysmorphism, developmental
delay, hypoparathyroidism, genitourinary anomalies and T-cell immunodeficiency.
Although submicroscopic deletion of 22q11.2 or mutations of TBX1 within this region
is the predominant cause of DiGeorge syndrome, the genetic etiology in a subset
of DiGeorge syndrome patients is still unknown. Knowledge of the genetic basis of
DiGeorge syndrome II will provide insight into the role of a new gene in this disease
and then translate into clinical applications for genetic counseling and preconceptional
diagnosis to reduce the prevalence of birth defects.
2. Research objective:
We have solicited one Korean male DiGeorge syndrome II patient with a de novo heterozygous
deletion, 46, XY, del(10)(p12.3p14). Additionally we have acquired two lymphoblastoid
cell lines of two independent Caucasian female patients with 10p13 deletion as well
as 60 DNA samples from DiGeorge syndrome patients without a 22q11.2 or 10p13 deletion
or the causative TBX1 mutation. Preliminary comparative deletion mapping defined
a 2.5 Mb minimal critical interval that contains 19 genes. Deletion of 10p13-14
led to the hypothesis that DiGeorge syndrome II (MIM 601362) might be a contiguous
gene deletion syndrome. However, the frequency of observed deletions is extremely
low, suggesting that this disorder may result from mutations in a single gene in
the deleted region. So far no single obvious candidate gene for DiGeorge syndrome
II has yet been identified. Our goal is positional cloning of a new gene involved
in DiGeorge syndrome II by comparative deletion mapping with our deletion patients.
For this purpose we need more patients with 10p13-10p14 deletion or translocation
involving this region with overlapping phenotype of DGS to refine candidate gene
3. The hypothesis:
We hypothesize that a gene for DiGeorge syndrome II is located in this 2.5 Mb region
containing 19 genes at 10p13. So the fine deletion mapping with a comparative genomic
hybridization (CGH) array for the first time at 10p13 and FISH (fluorescent in situ
hybridization) will provide us with the identification of a positional candidate
gene at 10p13, which will be screened for mutations in DiGeorge syndrome or DiGeorge
syndrome-like patients, who do not have a 22q11.2 or 10p13 deletion or a TBX1 mutation.
We hypothesize that haploinsufficiency of a gene within the deleted region will
be the cause of DiGeorge syndrome II and we expect to find nonsense and missense
mutations in the patients with a normal karyotype and without a 22q11.2 or 10p13
deletion or a TBX1 mutation.
Contact researcher: Hyung-Goo Kim
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 email@example.com
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
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:
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
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
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
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
firstname.lastname@example.org for further information regarding inclusion
criteria and study details.
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
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 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: email@example.com
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
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
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
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 Shahrin Ahsan, BS (DGAP coordinator) at
SAHSAN@Partners.org or 617-525-4548. Please see our web site at
Update March 17, 2002
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 firstname.lastname@example.org
University of Chicago
Department of Human Genetics
Room 319 CLSC
920 E. 58th Street
Chicago, IL 60637
Update January 11, 2002
1p36 deletion and 14 UPD
Dr. Lisa Shaffer Baylor Medical College Houston, TX
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
3q and cerebellar brain malformation
University of Chicago Inessa Grinberg (773) 834-7793 email@example.com
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:
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
Sau W Cheung, Ph.D., M.B.A. Director, Kleberg Cytogenetics Laboratory Baylor College
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
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
Children’s Hospital of Pittsburgh
3705, Fifth Avenue
Pittsburgh PA 15213 - 2583
Tel : +1 412 692 5182 Fax: +1 412 692 7443
13q deletion, ring 13 and partial trisomy 13
Dr. Dorothy Warburton
22q11 deletions, translocation
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