22
Dec
CDO Winter 2022 Newsletter
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Chromosome Disorder Outreach’s Winter 2022 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 Winter issue here. Questions, comments or to submit an article for an upcoming issue contact info@chromodisorder.org
11
Oct
Syndromes hidden within the 16p11.2 deletion region
16p11.2 is a region of chromosome 16 particularly prone to deletions and duplications. Copy number variations (CNVs) are defined as specific regions within a chromosome that are either deleted or duplicated. CNVs can either be inherited or can occur spontaneously in patients during development. The effects of CNVs are difficult... Read More
25
May
1p35 deletion and PUM1 mutation
1p35 deletion and PUM1 mutation discussed in a newly published article. Development of the nervous system is a complex process that is tightly regulated by protein levels and expression. One protein involved in this process is produced by a gene PUM1, located in 1p35, a region within the short arm... Read More
