24
Jan
Diagnosing Cat-Eye syndrome via ‘visual diagnosis’
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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
26
Mar
Q&A: Special Needs Trusts
Q&A Special Needs Trusts (SNT) Special Needs Trusts (also called Supplemental Needs Trusts) are trust funds that are set up for the benefit of person with disabilities who qualifies for Supplemental Security Income or Medicaid. The purpose of the SNT is to provide for those “extras” that are not covered... Read More
