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For all those affected by a rare chromosome disorder.

Latest Research

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.

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 family expenses).
  • Assurance that Chromosome Disorder Outreach, Inc. and all participants will be provided with updates on any research progress.

Should you have any further questions or concerns, please check with your personal physician before participating in any research study.


July 2011

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.
horwitz@uw.edu
University of Washington
Professor & Director, Medical Scientist Training Program
Department of Pathology (adjunct, Medicine, Genome Sciences & Biology)


January 2011

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 (ecreede@gm.slc.edu).

Survey Link: http://www.surveymonkey.com/s/CDO-EMC

Investigator:
Emilie M. Creede, Genetic Counseling Student, Sarah Lawrence College, ecreede@gm.slc.edu, (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.


December 2010

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, contact us:

Research coordinator’s name: Eric Morrow, MD, PhD

Phone number: 401–432–1200

Mailing address:
Developmental Disorders Genetics Research Program (DDGRP)
Bradley Hospital
1011 Veterans Memorial Parkway
East Providence, RI 02915

E–mail addresses: ddgrp@lifespan.org (for research group) or emorrow@lifespan.org (for Dr. Morrow, the Principal Investigator)

For more information, please visit: www.ddgrp.org


August 2010

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
tschmidl@coriell.org
P:856-757-4822
F:856-964-0254
FAQs About the NIGMS Repository


June 2010

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 breakpoints.

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 disease.

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 chromosome translocation.

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: hkim@chgr.mgh.harvard.edu (Hyung–Goo Kim) or lchorich@mcg.edu (Lynn Chorich)
Contact telephone number: 001–706–721–7591


March 2010

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.


October 2009

Research on Chromosome Abnormalities, Brain Malformations and Cognitive Development

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 walshlresearch@childrens.harvard.edu 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


May 2009

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
Assistant Professor
Columbia University Medical Center
CHC - 406 Genetics Laboratory
3959 Broadway
New York, NY 10032
Tel: 212-305-7373
email: vj2004@columbia.edu


February 2009

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 at krudd@genetics.emory.edu.


December 2008

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 these conditions.

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 costs.

For more information, please contact:

Shannon Fuhr, B.A.
WAGR Syndrome Study Coordinator
(301) 402-6762
WAGR_Study@mail.nih.gov

Joan Han, MD
WAGR Syndrome Study Principal Investigator
(301) 435-7820
hanjo@mail.nih.gov


September 2008

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 region.

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
hkim@chgr.mgh.harvard.edu


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  yatsenkosa@mail.magee.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 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 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 Shahrin Ahsan, BS (DGAP coordinator) at SAHSAN@Partners.org or 617-525-4548. Please see our web site at http://dgap.harvard.edu


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

1p36 deletion and 14 UPD

Dr. Lisa Shaffer Baylor Medical College Houston, TX
lshaffer@bcm.tmc.edu


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


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