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
02
May
CDO Spring 2022 Newsletter
Chromosome Disorder Outreach’s Spring 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 Spring 2022 issue here. Questions, comments or to submit an article for an upcoming issue contact info@chromodisorder.org
27
Aug
Clinical characterization of individuals with the distal 1q21.1 microdeletion
Clinical characterization of individuals with the distal 1q21.1 microdeletion is described in this summary. Deletions of the 1q21.1 segment may be subdivided into two groups: proximal (located in the interval of 144.9-146.2 Mb) and distal (~146.4-148.8 Mb). Proximal del 1q21.1 in the presence of modifying variant in RBM8A leads to... Read More
29
Jun
Two new reported cases of 16q22.3q23.3 duplication syndrome
Two new reported cases of 16q22.3q23.3 duplication syndrome and intrafamilial variability. The authors report a 15-year-old male with developmental delay, attention deficit disorder, autism, dysmorphic features (midface hypoplasia, prognathism), absence seizures, leg discrepancy (left leg being shorter than the right one) leading to scoliosis, and polymicrogyria. As a child he... Read More
25
Mar
Chromosome Disorder Outreach Winter – Spring 2021 Newsletter
Chromosome Disorder Outreach’s Winter-Spring 2021 Newsletter is now available! Each issue contains detailed and new information on rare chromosome disorders. The CDO newsletter includes a family spotlight, additional resources, Ask the Doctor, new research updates and in this issue information on rare chromosome disorders and COVID-19 vaccines. Download the full... Read More
