29
Jun
CDO Summer 2023 Newsletter
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Chromosome Disorder Outreach’s Summer 2023 Newsletter now available! The CDO newsletter includes a family spotlight, additional resources, media corner, Ask the Doctor and new research updates. Download a copy of the Summer issue here. Questions, comments or to submit an article for an upcoming issue contact info@chromodisorder.org
01
Nov
Potocki-Lupski Syndrome (PTLS)
Potocki-Lupski Syndrome (PTLS) is a disorder caused by a duplication of the 17p11.2 region of chromosome 17, including the RAI1 (Retinoic acid-induced protein 1) gene. Duplication of the RAI1 gene in particular is thought to be the key contributor to the symptoms of this disorder. These symptoms are vast and... Read More
19
Oct
2q23.1 microdeletion – 3 families demonstrate significant variability of symptoms
Tadros S, Wang R, Waters JJ, et al. “Inherited 2q23.1 microdeletions involving the MBD5 locus”. Molecular Genetics and Genomics Medicine 2017, v. 5, 608-613. 2q23.1 microdeletion – or a deletion within the q23.1 region of chromosome 2 – is known to cause a number of symptoms, such as intellectual disability,... Read More