Chromosome Disorders / Deletions, Duplications, Translocations, Trisomy
See also Trisomy 21 - Down Syndrome, Trisomy 13, 18, Chromosome 4 Deletions - Wolf-Hirschhorn Syndrome, Klinefelter Syndrome
Who to Contact
- Chromosome Deletion Outreach
P.O. Box 724
Boca Raton, FL 33429-0724
561-395-4252 (family helpline)
This non-profit, international, all volunteer, parent support organization was founded in 1992. Its membership consists of individuals, families and professionals seeking information regarding a variety of chromosome disorders. Although its main focus in the past has been on deletions, it does currently have many members that are concerned with additions, inversions, translocations and rings.
CDO has a mission to provide support to parents of children born with rare
chromosome disorders, gather together and share information, and to promote
research and a positive community understanding of these disorders. With
an extensive library of available up-to-date articles, detailed registry,
newsletters, research opportunities, interaction with our medical advisory
board, and a listserv that’s online 24 hours a day, CDO is able to provide
support and information to families around the world.
- National Center for Chromosome Inversions
c/o Jacqueline Barker
282 SE Anastasia Street
Lake City, Florida 32025 USA
The National Center For Chromosome Inversions is a non-profit corporation that acts as a information clearing house for patients and their families, that have been diagnosed with a chromosome inversion of any kind. All services provided by the NCFCI are free of charge, and provided by volunteers. The president of the NCFCI is Jacqueline Barker. Jacqueline is a licensed registered nurse and a certified medical assistant with over 20 years experience in the medical field. Jacqueline created the National Center For Chromosome Inversions to assist families who are having to deal with genetic abnormalities & handicaps created by chromosomal inversions. The majority of patients assisted by the NCFCI are the parents of young children who have just been diagnosed with a specific, rare chromosome inversion. Most of the families who have a family member diagnosed with a chromosome inversion do not know where to turn, what to do, or where to get help. This is where the NCFCI is able to make the families aware of their support systems, options and services that may available to them.
- Alliance of Genetic Support Groups
4301 Connecticut Ave., NW Suite 404
Washington, DC 20008-2304
The Genetic Alliance is an international coalition comprised of millions of individuals with genetic conditions and more than 600 advocacy, research and health care organizations that represent their interests. As a broad-based coalition of key stakeholders, the Alliance builds partnerships to promote healthy lives for all those living with genetic conditions. Our guiding principles are a dynamic statement of the mission and vision that infuse all Alliance endeavors. With a 16-year history as a 501(C)(3) not-for-profit, the Alliance identifies solutions to emerging problems and endeavors to reduce obstacles to rapid and effective translation of research into accessible technologies and services.
Make Connections with Other Families
- 1p36 Deletion
For parents of children who have 1p36 chromosome deletion.
- 1q21.1 Chromosome Deletion
This group is for those that have known or have just discovered that they or their child/children have a 1q21.1 chromosome. I will post research as more is done, research studies that are currently going on and more than anything, this group is here for SUPPORT and to learn about this syndrome that has not yet been named.
- Chromosome 3 Support Group
This is a place for people affected by rare chromosome 3 abnormalities to share and locate information and to support each other with the challenges of raising children with rare chromosome 3 disorders.
- 4q Deletion Syndrome
This group is intended as a place for support and information gathering for parents of children diagnosed with 4q deletion syndrome. Professionals are welcome and encouraged to participate.
- Chromosome 8
For those diagnosed with Chromosome 8 anomalies and their friends, families, and professionals.
- 10qdeletion -
Chromosome 10q Deletion Support Group
This group is intended as a support for families, caregivers, and persons
affected by deletions on chromosome 10q. By joining together we can be advocates
research, inform each other of new information, and be a support to one another
- Deletion13q -
Chromosome Deletion 13
Chromosome Deletion 13 supports families affected by this rare genetic disorder.
- Inverted-Dup15 - IDEAS Family Listserve
Created to bring together families and professionals to share information,
stories and ideas about duplications of chromosome 15q.
- 17p11.2 Duplication
Designed to promote communication and the exchange of information about this chromosome disorder among parents, professionals, and researchers. Background Info on 17p11.2 duplication: This is a genetic syndrome caused by an interstitial duplication of chromosome 17p11.2. Characteristics that seem common to these individuals are developmental and language delay, hypotonia (poor muscle tone), short stature, and difficulty swallowing and feeding.
- Chromosome 18 Kids
A gathering place for families that are caring for children with chromosome 18 disorders.
- Ring 18
The Ring 18 e-mail list is to provide information and support to families affected with the chromosome syndrome Ring 18.
Listserve for members of The Chromosome 18 Registry to share experiences.
A private community for those who have loved ones with this rare genetic syndrome. It is a syndrome based on chromosome 18.
The 18p- e-mail list is to provide information and support to families affected with the chromosome syndrome 18p-.
- Chromosome 22 Central List
For families and professionals interested in Chromosome 22
- Ring 22
A resource for families and friends of people with ring chromosome 22.
- 22q13 Deletion Syndrome - Phelan-McDermid Syndrome
This is a list for parents of xxy sons, or other sex chromosome anomalies. Learning and supporting each other is the goal. It is a restricted list and members must be approved by the moderator.
- Chromosome Deletion Outreach
CDO provides support & information to families affected by any rare chromosome disorder. This group provides parenting support for those with babies and young children.
- Trisomy Med
An e-mail based support group for families, friends and health professionals who
share a common interest in the rarer trisomy conditions. The Tri-Med part of the
list is strictly for the discussion of on-topic issues related to trisomy.
Because of the relative rarity of these conditions, families are often separated
by large distances. The technology of the internet offers us the unique
opportunity to share our information,joys and sorrows, offer support and comfort
to each other regardless of where we are geographically. List members represent
many different trisomy conditions (including full, partial, mosaic, ring, 18,
14, 13, 8, 6, 4 etc.) and live in many different countries.
- Tetrasomy/Pentasomy X Support Group
Created to provide support, friendship and information and raise awareness of 48XXXX & 49XXXXX, amongst the medical profession and the public.
Learn More About It
General Web Sites