23
Sep
Silver-Russell Syndrome, 7p12 and the GRB10 gene
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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
18
Jul
Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome
Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome Cri-du-chat syndrome (CdCs) is caused by a deletion of the distal part of the short arm of chromosome 5. The clinical characteristics of CdCs are well known and include a cat-like cry, psychomotor delay, intellectual disability, microcephaly and dysmorphic... Read More
15
Jul
22q11.2 duplication, bladder exstrophy and the LZTR1 gene
22q11.2 duplication, bladder exstrophy and the LZTR1 gene Bladder exstrophy is a rare birth defect resulting in the malformation of the bladder and urethra. It is part of the bladder exstrophy-epispadias complex (BEEC). In several previously published reports children with bladder exstrophy were found to have duplications of the 22q11.2... Read More
