10
Apr
CDO’S Spring 2020 Newsletter
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CDO Supports Families… Always. CDO is here for you. These are stressful and uncertain times – made even more so for those with a chronic or rare disorder. Everything we relied on changed overnight, and we accept new ways of doing the most basic things. As we learn to live... Read More
24
Jan
Diagnosing Cat-Eye syndrome via ‘visual diagnosis’
New research study ongoing directed by Dr. Thomas Liehr of the Jena Institute of Human Genetics in Jena, Germany to learn if diagnosing Cat-Eye syndrome via visual diagnosis is possible. In individuals with Cat-Eye syndrome, the short arm and a small region of the long arm of chromosome 22 (i.e.,... Read More
23
Dec
CDO’s Winter 2019 Newsletter
2019 has been a busy year for CDO! This year has brought an increased number of individuals and families to the group and we are so glad that they found CDO. We hope the information we provide is helpful and our community supportive. Due to the large number of new... Read More
18
Sep
Learning more about genes associated with human diseases
Chromosome Disorder Outreach is asked frequently how to learn more about the genes associated with human diseases involved in any chromosome disorder. Here is a brief primer on how to search for more information. The Decipher Database is used mainly for information about which genes are located at a specific... Read More
08
Jul
Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome 10q23 microdeletions
Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a genetic condition characterized by large head size, hamartomas, intestinal polyposis, and genital pigmentation. Intellectual disability is found is around half of BRRS patients as well. This disorder... Read More
