Support Groups for Chromosomal Conditions
Down syndrome, trisomy 18, trisomy
13, 11q, trisomy 9, 4p-, cri-du-chat, deletions, inversions,
duplications, translocations, ring, sex-chromosome anomalies, mosaicism,
fragile-x syndrome, other trisomy, variations, cancer cytogenetics,
other cytogenetic resources
1 | 2 | 3 | 4 | 5 | 6 | 7
| 8 | 9 | 10 | 11
| 12 | 13 | 14 | 15
| 16 | 17 | 18
| 19 | 20 | 21 | 22
| X & Y
All Chromosomal Conditions
(deletions, translocations, trisomy, other)
- Chromosome
Deletion Outreach
- P.O. Box 724, Boca
Raton, FL 33429-0724
- Phone: 888.236.6880 (toll
free)
- E-mail: info@chromodisorder.org
- Web site: www.chromodisorder.org/
-
- UNIQUE:
Rare Chromosome Disorder Support Group
- P.O.Box 2189, Caterham Surrey
CR3 5GN England
Telephone: 44 (0)1883 330766
E-mail: info@rarechromo.org
URL: www.rarechromo.org
Little
Yellow Book: Guide to Rare Chromosome Disorders (.pdf
file)
- Chromosome
Mosaicism, JFurnival and WRobinson, University
of British Columbia, Research Institute for Children’s and Women’s
Health, Vancouver, BC Canada
- Caring, Inc.
- PO Box 400, Milton,
WA 98354
- Phone: 206.922.8607
- Trisomy
Online, family
site
- Trisomy Net Ring
family sites about Trisomy and related information
- Chromosome
Rearrangements Discovered Through Prenatal Diagnosis,
booklet for families about unusual chromosome abnormalities detected by prenatal
diagnosis. Inversions, translocations and markers. Also in Spanish
- Chromosomes,
Human Genome Landmarks
- Human
Chromosomes, Oak Ridge National Laboratories
Rainbows
Down Under,
Trisomy and other syndromes, Australia
- Cytogenetic
Resources, University of Kansas Medical
Center
-
Chromosome
4
- 4p-
Support Group (Wolf Hirschhorn Syndrome)
- 2585 Taylor, Longview,
WA 98632
- Phone: 360.577.9033
- Web site: www.4p-supportgroup.org
- E-mail contact: fourpminus@4p-supportgroup.org
- New parent / member
information, newsletters, listserv, biographical information exchange, regional
/ national contacts
- Wolf-Hirschhorn Guidebook, UNMC,
600 S. 42nd Street, PO Box 985450, Omaha, NE 68198-5450, Phone: 402.559.7467,
Fax: 402.559.5737, E-mail: mrimedia@unmc.edu
Chromosome 5
- 5p- Society
(Cri-du-Chat)
- 11609 Oakmont, Overland
Park, KS 66210
- Phone: 913.469.8900
- E-mail: fivepminus@aol.com
- Web Site: http://www.fivepminus.org/
-
- Cri Du Chat Support Group of Australia Inc.
- 5 Connal Drive, Frankston,
VIC 3199
- E-mail: maggiecdc@bigfoot.com
- Web site: http://www.vicnet.net.au/~criduch/
- Cri
Du Chat Syndrome Support Group, United Kingdom
- 5p- Family Support
Services, Canada
- Cri
Du Chat Syndrom, Switzerland
- Cri-Du-Chat
Syndrome Support Group, England
- Cri-Du-Chat
Syndrome, Japan
- Cri-du-Chat
Syndrome Support Page, South Africa
- Asociación
Nacional de Afectados por el Síndrome del Maullido del Gato (Cri
du Chat Syndrome), Spain
- Associazione Bambini Cri-du-chat Home Page,
Italy
- Association
Francophone du Cri du Chat, France
- Förderverein
für Kinder mit Cri-du-Chat-Syndrom, Germany
- South
African Virtual Cri-du-Chat Syndrome Support Page
- Svenska
Cri Du Chat - Sällskapet
Chromosome
7
- Chromosome 7 Information
The Hospital for Sick Children
Department of Genetics Room 9102
555 University Avenue, Toronto Ontario M5G 1X8 Canada
Web Site: www.genet.sickkids.on.ca/chromosome7/
Chromosome
8
- 8p Duplication Support Group
- Genetics Center, Children's Medical
Center, 1 Children's Plaza
- Dayton, OH 45404
- Phone: 937.641.5645 (Faith
Callif-Daley) - Fax:
937.641.5325
- E-mail: callif-daleyf@childrensdayton.org
- Trisomy 8 Informal Support Group
- E-mail: khallent@aol.com
Chromosome
9
- Chromosome
9p Network (merger of Support Group for Monosomy 9p-
and Support Group for 9p-)
393 N. Grass Valley Rd., Pine Valley, UT 84781
Phone: 435.574.1121 - Fax: 435.574.2000
E-Mail: beverly.udell@9pminus.org
Web Site: www.9pminus.org
Bill & Alice Todd
4027 E. Piedmont Dr., Highland, CA 92346
Phone: 909.862.4470 - Fax: 909.862.4470
E-mail: atoddna@sprynet.com
Chromosome
11
- 11q
Research and Resource Group
- 6123 A. Duncan Road, Petersburg,
VA 23803
- Phone: 804.863.2114 - Fax:
804.828.5383
- E-mail: mspace@vcu.edu
- Web site: www.11q.net
- European
Chromosome 11q Network
- Annet van Betuw
- Else Mauhsstraat 7, 6708
NJ Wageningen, Netherlands
- E-mail: avbetuw@wxs.nl
- Web site: www.11q.org
(http://home01.wxs.nl/~avbetuw/home.htm)
- Materials in
Dutch, English, German, Italian, and "Scandinavian" (for Norwegian,
Swedish and Danish families)
- International
11;22 Translocation Network
- Stephanie St-Pierre
- 232 Kent Avenue, Timmins,
Ontario, CANADA P4N 3C3
- E-mail: mum2_1@hotmail.com
- Phone/ Fax: 705.268.3099
- Web site:
www.nt.net/~a815/index.html
- Materials in
English, French, German, Dutch, Spanish
- Chromosome 11 Deletion / WAGR
Syndrome Support Group
2063 Regina, Lincoln Park, MI 48146
Email: TheMooZoo@aol.com
See also Jacobson
Syndrome (11q24.1 deletion)
Chromosome
13 (In some references, Trisomy 13 is called Patau
Syndrome)
- SOFT
(Support Organization for Trisomy 18, 13, other)
- Support Organization for Trisomy
18, 13 and Related Disorders
- 2982S Union St., Rochester,
NY 14624
- Phone: 716.594.4621
- Web site: www.trisomy.org/
- Guide
for professionals
- S.O.F.T. Australia
198 Oak Road, Kirrawee NSW 2232 Australia
Phone: 02.9521.6039
E-mail: karens@tig.com.au
Chromosome
14
- Chromosome
14, Human Genome Landmarks
- Human
Chromosome 14, Oak Ridge National Laboratories
- Associazione
Internazionale Ring14
- 34 - 42100 Reggio Emilia, Italy
- Phone: 39 0522/322607 - Fax: 39
0522/324835
- E-mail: info@ring14.com
- Web site: www.ring14.com
Chromosome
15 - isodicentric 15 (formerly, inverted duplication 15)
- Isodicentric
15 Exchange, Advocacy, and Support (IDEAS)
- 416 Big Mount Road, Thomasville,
PA 17364-9768
- Phone: 717.225.5229 - Fax:
610.891.2062
- E-mail: ideas@craftech.com
- Web site: www.idic15.org
Chromosome
17
- Parents & Researchers Interested
in Smith Magenis Syndrome (PRISMS)
- 11875 Fawn Ridge Lane, Reston,
VA 22094
- Phone: 703.709.0568
- E-mail: acmsmith@nchgr.nih.gov
- Web site: www.kumc.edu/gec/support/smith-ma.html
Chromosome
18 (In some references, Trisomy 18 is called Edwards
Syndrome)
- SOFT
(Support organization for Trisomy 18, 13, other) -
for families with child with Trisomy 18, 13 or other chromosome disorders
- annual conferences, literature, newsletter, and other
- Web site: www.trisomy.org/
- Guide
for professionals
- S.O.F.T.
Australia
198 Oak Road, Kirrawee NSW 2232, Australia
Phone: 02.9521.6039
E-mail: karens@tig.com.au
Web site: www.challengenet.com/~SOFT/index.htm
- Chromosome
18 Registry & Research Society
- 6302 Fox Head, San Antonio, TX
78247
- Phone: 210.657.4968 - Fax: 210.657.4968
E-mail : cody@uthscsa.edu
- Web site: www.chromosome18.org/
- Support Organization for Trisomy
18, 13 and Related Disorders
- 2982S Union St, Rochester,
NY 14624
- Phone: 716.594.4621
- Rainbows
Down Under - Trisomy 18 and related disorders site by
a parent, Australia
- Chromosome
20
- Ring 20 Chromosome Support Group
(forming spring 1999)
155 Newell Ave, St. Clairsville, OH 43950
- E-mail: tapritch@1st.net
Chromosome
21 (Down Syndrome)
- Association
for Children with Down Syndrome
- 2616 Martin Avenue, Bellmore,
NY 11710-3169
- Phone: 516.221.4700 - Fax:
516.221.4311
- Web site: www.acds.org/
- Down
Syndrome Research Foundation & Resource Centre
- 3580 Slocan Street, Vancouver,
BC, Canada V5M 3E8
- Phone: 604.431.9694
or 1.888.464.dsrf (in British Columbia only)
- Fax: 604.431.9248
- E-mail: dsrf@sfu.ca
- Web site: www.dsrf.org
- (Links
to Down Syndrome materials in Danish, French, Italian, Japanese, Korean,
Portuguese, Swedish, Spanish, Turkish, other)
- Canadian
Down Syndrome Society
- Box 52027, Calgary, Canada CN
T2E 8K9
- Phone: 403.253.5825
- Babies
with Down Syndrome - for parents whose baby has been recently
diagnosed with Down Syndrome or patients continuing affected pregnancies,
this site provides useful information and links to other sources of support
- Web site: www.nas.com/downsyn/welcome.html
- National
Association for Down Syndrome
- P.O. Box 4542, Oak
Brook, IL 60522-4542
- Web site: www.nads.org/
- National
Down Syndrome Congress
- 1605 Chantilly, Atlanta,
GA 30324-3269
- Phone: 800.232.6372 or 404.633.1555
- Fax: 404.633.2817
- National
Down Syndrome Society
- 666 Broadway, New
York, NY 10012-2317
- Phone: 800.221.4602 or 212.460.9330
- Fax: 212.979.2873
- Web site: www.ndss.org/
- Mosaic
Down Syndrome (MDS)Page
- Parent Assistance Committee on
Down Syndrome
- 208 Lafayette Avenue, Peekskill,
NY 10566
- Phone: 914.739.4085
- International Foundation for Genetic
Research
- 400 Penn Blvd., Suite 721, Pittsburgh,
PA 15235
- Phone: 412.823.6380
International
Mosaic Down Synrome Association
(IMDSA)
Other Down Syndrome Sites:
- Down
Syndrome Association of Greater Cincinnati
- Down
Syndrome Association Malta
- Down
Syndrome Association of Metropolitan Toronto
- Down
Syndrome Association of Middle Tennessee
- Down
Syndrome Association of Minnesota
- Down
Syndrome, for new parents
- Down
Syndrome League of the Greater Bay Area
- European
Down's Syndrome Association
- Hudson
Valley Down Syndrome Association
- Indiana
Down Syndrome Foundation
- Kansas
City Down Syndrome Guild
- Mile
High Down Syndrome Association
- National
Association for Down Syndrome
- Riverbend
Down Syndrome Parent Support Group
- Scottish
Down's Syndrome Association
- Tidewater
Down Syndrome Association
- Upside!
Down Syndrome Society
- Down
Syndrome Associations List
- Síndrome
de Down, Rio de Janeiro
- Association for Children with
Down Syndrome in Johnson County, 8001 Conser, #211, Overland Park,
KS 66204, Phone: 913.631.5822
- People of Every Stripe,
P.O. Box 12505, Portland, OR 97212, Phone 800.282.0612, Fax 503.282.0615,
e-mail people@teleport.com
Custom made dolls with differences / conditions including Down Syndrome
- Adaptive
Toys, Family Village
Chromosome
22
- Chromosome
22 Central
- [Cat Eye Syndrome,
Ring 22, 11;22 Translocation, 22q- Syndromes]
- 237 Kent Avenue, Timmins,
ON CANADA P4N 3C2
Phone/ Fax: 705.268.3099
- E-mail: a815@c22c.org
- Web site: www.c22c.org
- 22q13
Deletion Syndrome Foundation
- c/o MC Phelan, Ph.D., Genetic
Diagnostic Laboratory
- T.C. Thompson Children's Hospital,
910 Blackford Street - Suite 401 MPB
- Chattanooga, TN 37403
- Phone: 423.778.6279 - Fax:
423.778.3164
- E-mail: phelanK@erlanger.org
- International
11;22 Translocation Network
- Stephanie St-Pierre, 232
Kent Avenue
- Timmins, Ontario, CANADA P4N 3C3
- E-mail: mum2_1@hotmail.com
- Phone/fax: 705.268.3099
- Web site: www.nt.net/~a815/index.html
- Materials
in English, French, German, Dutch, Spanish
- 22q11
microdeletion syndrome,
small piece of missing chromosome material at breakpoint 22q11, deletion is
associated with Velo-Cardio-Facial Syndrome (VCFS, Shprintzen Syndrome), DiGeorge
Sequence, CATCH 22, Conotruncal Anomaly Face syndrome (CAFS) (Japan) and is
sometimes seen in Opitz G/BBB syndrome, CHARGE Association and Cayler-Cardio-Facial
Syndrome. Physicians have different preferences in terminology:
- Chromosome X and / or
Y (sex chromosome anomalies):
Fragile-X
Syndrome
Klinefelter Syndrome
- Klinefelter
Syndrome & Associates, Inc.
- PO Box 119, Roseville,
CA 95678-0119
- Phone: 916.773.1449 - Fax:
916.773.1449
- e-mail: melissa@genetic.org
or raylstoc@ix.netcom.com
or ks47xxy@ix.netcom.com
- Web site: www.genetic.org/
- The Even Exchange
Newsletter
- Note: The name
of this group may be changed in the future to the X & Y Family Genetic
Network and include XXX, and XXY and multiple sex chromosome variants
- A
Guide for XXY Males and Their Families, RBock, National
Institute of Child Health and Human Development
- Klinefelter
Syndrome (XXY), Turner Center For Information,
Counselling, and Research
- Klinefelter Syndrome:
An Orientation, Turner Center, Information,
Counselling, Research
Chromosomal
Problems Discovered through Prenatal Diagnosis: Klinefelter Syndrome,
(.pdf) PacNorGG spanish
version
Klinefelter
Syndrome Support Group Home Page, numerous links,
resources, including information on variants 48,XXXY
and 48,XXYY, or variant 49,
XXXXY, international groups, listservs
XXXXY
49,XXXXY
information, Klinefelter Syndrome Organization
- 10001 N E 74th Street, Vancouver, Washington, USA 98662-3801
- Phone: 360.892.7547
- E-mail: kimbj@juno.com
- Newsletter, 49er Banner
XXXXY
Syndrome
XXYY
XXYY
Home Page
Turner
Syndrome
- Turner
Syndrome Society of the United States
- 14450 T.C. Jester, Suite 260,
Houston, TX 77014 USA
- Phone: 800.365.9944 or 832.249.9988
- Fax: 832.249.9987
- Website: www.turner-syndrome-us.org
- Turner
Syndrome Organizations Worldwide
- Brochure,
2002 (.pdf)
- Camps
for individuals with Turner Syndrome
- The
Turner Center For Information, Counselling, and Research
- The Psychiatric Hospital in
Aarhus
Skovagervej 2, DK-8240 Risskov. Denmark
Telephone: +45 86 17 77 77
Fax: +45 86 17 59 77
E-mail: mpr@cybernet.dk
- Web site: www.aaa.dk/turner/ENGELSK/
- English versions of Danish booklets, by Johannes Nielsen
- (+45 86 17 77 7, x
549)
- Turner
Syndrome Booklet and Turner
Syndrome Orientation
- Also available:
- Klinefelter
Syndrome (XXY)
- Klinefelter Syndrome:
An Orientation
- XYY
Syndrome - see XYY
Syndrome: An Orientation
- Triple-X
Syndrome (XXX) - see Triple
X Females. An Orientation
- Turner
Centret Årsberetning, Denmark
- Endocrine
and Turner Syndrome,
fact sheet, Endocrine Society and the Hormone Society
Turner Syndrome Society of Kansas
City (KS / MO)
Turner Syndrome
Resources
- Turner
Syndrome Society of Canada
- 814 Glencairn Ave., Toronto,
Ontario M6B 2A3
- Phone: 800.465.6744 or 416.781.2086
- Fax: 416.781.7245
- L'association
du syndrome de Turner du Québec,
french
- Turner
Syndrome,
National Institutes of Health
- Turner
Syndrome Support Society,
UK
Chromosomal
Problems Discovered through Prenatal Diagnosis: Turner Syndrome,
(.pdf) PacNorGG spanish
version
Turner
Syndrome,
Continuing Education Credit (CME) online for health care providers, requires
registration (free) Medscape, posted December 23, 2002
-
Triple
X Syndrome
Triple-X
Syndrome (XXX) - see Triple
X Females. An Orientation, Turner Center For Information,
Counselling, and Research
Triplo-X
Syndrome, written by student, summary of articles,
graphics,description of cell division, contacts
Chromosomal
Problems Discovered through Prenatal Diagnosis: 47, XXX Syndrome,
(.pdf) PacNorGG spanish
version
Tetrasomy
X / Pentasomy X
Tetrasomy
X / Pentasomy X Support Group
1402 Governor House Circle, Wilmington,
Delaware 19809
Phone: 302.764.3924
E-mail: cyndibradley@hotmail.com
Also contact: Kim
Jenny, MS, Genetic Counselor, Cardiology, Children's Hospital of Philadelphia:
kjenny@erols.com or jenny@email.chop.edu
On-line support group: tetra-X-list-subscribe@egroups.com,
kjenny@erols.com, semi-annual newsletter
Subscribe through: www.egroups.com/group/tetrasomy_x
XYY
Syndrome
XYY
Syndrome - see XYY Syndrome: An Orientation,
Turner Center
For Information, Counselling, and Research
Resource for genetic counselors
(link with family of son diagnosed prenatally 1997, contact: kathleen.delp@spectrum-health.org)
Chromosomal
Problems Discovered through Prenatal Diagnosis: XYY Syndrome,
(.pdf) PacNorGG spanish
version
References for
sex chromosome anomalies (SCA):
- Linden MG, Bender BG, Robinson
A. "Intrauterine diagnosis of sex chromosome aneuploidy." OB GYN,
87:468-475, 1996. A comprehensive article about sex chromosome anomalies.
Useful for professionals and families.
- Robinson A. et. al. "Clinical
manifestations of sex chromosome anomalies." Comprehensive Therapy, 16:3-10,
1990. Useful article for professionals and families.
- Linden, M, BBender, RHarmon,
DMzarek, ARobinson,
"47,XXX: What is the prognosis?",
Pediatrics 82(4):619-630, 1988
- Milunsky A. Genetic Disorders
and the Fetus, see chapter "Prenatal
Diagnosis of Sex Chromosome Abnormalities", 3rd edition, 1992, to be
revised 1998.
- Robinson and Linden. Clinical
Genetics Handbook, chapter on sex chromosome anomalies.
- Linden, Bender and Robinson.
"Sex chromosome tetrasomy and pentasomy." Pediatrics, 66: 672-682,
1995. Disorders involving more than one extra X and/or Y chromosome.
- Parents of 47,XXX and 47,XYY
fetuses or children may find articles (1) (2) above helpful.
- Triple-X Females: An
Orientation" by Johannes Nielsen, from The Turner Center, Blamunkevej
6, DK-8240 Russkov or Risskov, Denmark. A 20-page booklet written for families.
see also, Triple-X web site: www.aaa.dk/turner/ENGELSK/Trien.htm
The Internet has become a
forum for many SCA individuals to express their experiences publicly. Some of
these are quite negative. Parents should be wary of the incompleteness of what
they read over the Internet. A genetic counselor
or clinical geneticist can help interpret and clarify information
Other
cytogenetic resources:
- Cytogenetic
Resources, University of Kansas Medical
Center
- MUMS,
list of chromosoms conditions: inversion, deletion, addition, ring,
other
- Count
of Mapped Genes by Chromosome,
Genome Database (GCB)
- Chromosome
Committees, Human
Genome Organization (HUGO)
- Rare Trisomy Message Board
- Atlas
of Genetics and Cytogenetics in Oncology and Haematology,
Genetics University Hospital, France (English and French)
- Warburton D
(1991), De
Novo Balanced Chromosome Rearrangements and Extra Marker Chromosomes Identified
at Prenatal Diagnosis: Clinical Significance and Distribution of Breakpoints,
American Journal of Human Genetics 49:995-1013
- Berend SA, Horwitz J, McCaskill C, Shaffer LG, Identification
of uniparental disomy following prenatal detection of Robertsonian translocations
and isochromosomes, Am J Hum Genet 66(6):1787-93, 2000
To locate a genetic counselor, or clinical geneticist:
Revised January 23, 2009
Genetic Conditions & Support Groups | Genetic Societies
| Clinical Resources
| Labs
| Clinics
| Genetics Education
| Careers
| Cytogenetics
| Genome Centers
| Genetic Computer Resources
| Professional Education
| Diversity | Advocacy
| Glossaries | Advisors
| Software
| Disclaimer | Privacy
| About | FAQ
| Suggestions & Feedback
| Search
Genetics Education Center
University of Kansas Medical Center © 1995-2009
Debra Collins, M.S. CGC, Genetic Counselor, dcollins@kumc.edu
This site subscribes to the principles of the HONcode
(Health on the Net, Code of Conduct for Medical and Health Web Sites)
of the Health On the Net Foundation.