06
Jul

5q14.3 deletions, the ADGRV1 gene and epilepsy

Chromosome 5q14.3 deletions – deletions within a region of the long arm of chromosome 5 – cause intellectual disability, epilepsy, dysmorphisms (abnormal differences in body structure), structural brain abnormalities, and hypotonia (low muscle tone.) Seizure types found in 5q14.3 deletions typically include myoclonic seizures, infantile onset of febrile seizures, and infantile spasms. Common structural brain...
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28
Jun

Summer 2018 Newsletter – Issue No. 81

Hello everyone! 2018 is CDO’s 26th year of providing support for all those coping with a rare chromosome disorder diagnosis. We hope you will visit our website to learn more about the many ways CDO helps individuals and families. And while there, please also check out our You Can Help page. As a charity, CDO...
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20
Jun

Phelan-McDermid Syndrome Patient Powered Research Network

This article discusses Phelan-McDermid Syndrome and the Patient Powered Research Network. Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder, with only about 1,400 cases reported. It is caused either by a 22q13 deletion – a region within the long arm of chromosome 22 – or a mutation within the SHANK3 gene (found within this region)....
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