14
Nov
Neuropsychiatric phenotypes and ASD features in 3q29 deletion syndrome
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Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry The phenotype of 3q29 deletion syndrome is characterized mainly by neurodevelopmental and psychiatric features. Usually this syndrome is caused by a de novo deletion, typically 1.6 Mb, on chromosome 3. Although, it... Read More
07
Nov
Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
Phelan-McDermid Syndrome (PMS), also known as 22q13 Deletion Syndrome, is a rare genetic disorder caused by deletions in the 22q13.3 region involving the SHANK3 gene, Sometimes mutations in the SHANK3 gene may produce the same condition. Clinical features in patients broadly vary and include global developmental delay, intellectual disability... Read More
23
Sep
Silver-Russell Syndrome, 7p12 and the GRB10 gene
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. Silver-Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth restriction, poor growth after birth, relatively large head, a triangular face with a prominent forehead, body asymmetry and feeding difficulties. SRS is genetically... 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
22
Aug
CDO Summer 2019 Newsletter
CDO Summer 2019 Newsletter – Rare Chromosome Disorder Support Network. CDO was recently contacted by the Chan Zuckerberg Initiative which among other programs has created the Rare As One Project. This project partners with the rare disease community to lift up patient-led research and provide support in the form of... Read More
